All individuals with variants in gene RFC1

87 entries on 1 page. Showing entries 1 - 87.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00248186 - PubMed: Lhota 2016 analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2 F no Czech Republic - - 0 - - cancer, breast 32y ductal breast cancer, subtype HER-2 1 1 Zdenek Kleibl
00249663 Fam1-1 PubMed: Cortese 2019 2-generation family, 3 affected (3M), unaffected heterozygous carrier parents M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 3 Johan den Dunnen
00249664 Fam1-2 PubMed: Cortese 2019 - M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential 2 1 Johan den Dunnen
00249665 Fam1-3 PubMed: Cortese 2019 - M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) 2 1 Johan den Dunnen
00249666 Fam2-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735) 2 2 Johan den Dunnen
00249667 Fam2-2 PubMed: Cortese 2019 - F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency and retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249668 Fam3-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) 1 2 Johan den Dunnen
00249669 Fam3-2 PubMed: Cortese 2019 - F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249670 Fam4-2 PubMed: Cortese 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (fecal incontinence); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs 2 2 Johan den Dunnen
00249671 Fam5a-1 PubMed: Cortese 2019 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 3 Johan den Dunnen
00249672 Fam5a-2 PubMed: Cortese 2019 - F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); no cerebellar atrophy (-HP:0001272) 2 1 Johan den Dunnen
00249673 Fam5b-2 PubMed: Cortese 2019 - M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249674 Fam6a-1 PubMed: Cortese 2019 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 3 Johan den Dunnen
00249675 Fam6a-2 PubMed: Cortese 2019 - F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249676 Fam6b-1 PubMed: Cortese 2019 - M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249677 Fam7-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 2 Johan den Dunnen
00249678 Fam7-2 PubMed: Cortese 2019 - M yes - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249679 Fam8-2 PubMed: Cortese 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 2 Johan den Dunnen
00249680 Fam8-3 PubMed: Cortese 2019 - F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (abnormal pupil reactivity); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249681 Fam9-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; 2 2 Johan den Dunnen
00249682 Fam9-2 PubMed: Cortese 2019 - F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) 2 1 Johan den Dunnen
00249683 Fam10-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential 2 2 Johan den Dunnen
00249684 Fam10-1 PubMed: Cortese 2019 - M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential 1 1 Johan den Dunnen
00249685 Fam11-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 2 Johan den Dunnen
00249686 s1 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249687 s2 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, urinary incontinence, impaired regulation of blood pressure); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249688 s3 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs 2 1 Johan den Dunnen
00249689 s4 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; compound motor action potential patchy reduction of conduction velocities; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249690 s5 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249691 s6 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249692 s7 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249693 s8 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) 2 1 Johan den Dunnen
00249694 s9 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249695 s10 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249696 s11 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735) 2 1 Johan den Dunnen
00249697 s12 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249698 s13 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary dysfunction); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) 2 1 Johan den Dunnen
00249699 s14 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency, gastro-intestinal dysmotility); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249700 s15 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) 2 1 Johan den Dunnen
00249701 s16 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 2 1 Johan den Dunnen
00249702 S17 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential 1 1 Johan den Dunnen
00249703 S18 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249704 S19 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249705 s20 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential 1 1 Johan den Dunnen
00249706 s21 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249707 s22 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential 1 1 Johan den Dunnen
00249708 s23 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249709 s24 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249710 s25 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249711 s26 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249712 s27 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249713 s28 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs 1 1 Johan den Dunnen
00249714 s29 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, xeropthalmia); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249715 s30 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential 1 1 Johan den Dunnen
00249716 s31 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735) 1 1 Johan den Dunnen
00249717 s32 PubMed: Cortese 2019 sporadic case F - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (abnormal blood pressure control, abnormal bowel motility); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) 1 1 Johan den Dunnen
00249718 s33 PubMed: Cortese 2019 sporadic case M - - - - 0 - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) 1 1 Johan den Dunnen
00249719 control PubMed: Cortese 2019 analysis 608 normal chromosome F;M - - - - 0 - - Healthy/Control - 1 79 Johan den Dunnen
00249720 control PubMed: Cortese 2019 analysis 608 normal chromosome F;M - - - - 0 - - Healthy/Control - 1 48 Johan den Dunnen
00249721 control PubMed: Cortese 2019 analysis 608 normal chromosome F;M - - - - 0 - - Healthy/Control - 1 4 Johan den Dunnen
00249724 CANVAS1 PubMed: Rafehi 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - Europe - 0 - - ataxia - 1 2 Johan den Dunnen
00249725 CANVAS2 PubMed: Rafehi 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - Europe - 0 - - ataxia - 1 2 Johan den Dunnen
00249726 CANVAS3 PubMed: Rafehi 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - Cyprus Greece - 0 - - ataxia - 1 2 Johan den Dunnen
00249727 CANVAS4 PubMed: Rafehi 2019 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M - - - - 0 - - ataxia - 1 4 Johan den Dunnen
00249728 CANVAS5 PubMed: Rafehi 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Lithuania;Latvia - - 0 - - ataxia - 1 2 Johan den Dunnen
00249729 CANVAS6 PubMed: Rafehi 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - Europe - 0 - - ataxia - 1 1 Johan den Dunnen
00249730 CANVAS7 PubMed: Rafehi 2019 - M - Australia Europe; Maori - 0 - - ataxia - 1 1 Johan den Dunnen
00249731 CANVAS8 PubMed: Rafehi 2019 - F - - Europe - 0 - - ataxia - 1 1 Johan den Dunnen
00249732 CANVAS9 PubMed: Rafehi 2019 2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents F;M - Lebanon - - 0 - - ataxia - 1 4 Johan den Dunnen
00249733 CANVAS10 PubMed: Rafehi 2019 - M - - Europe - 0 - - ataxia - 1 1 Johan den Dunnen
00249735 CANVAS12 PubMed: Rafehi 2019 - M - Turkey - - 0 - - ataxia - 1 1 Johan den Dunnen
00249737 CANVAS14 PubMed: Rafehi 2019 - M - - Europe - 0 - - ataxia - 1 1 Johan den Dunnen
00249738 CANVAS16 PubMed: Rafehi 2019 - F - - Europe - 0 - - ataxia - 1 1 Johan den Dunnen
00249740 CANVAS18 PubMed: Rafehi 2019 - F - Australia Europe; Maori - 0 - - ataxia - 1 1 Johan den Dunnen
00249742 CANVAS20 PubMed: Rafehi 2019 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Spain - - 0 - - ataxia - 1 2 Johan den Dunnen
00249743 CANVAS21 PubMed: Rafehi 2019 - M - India - - 0 - - ataxia - 1 1 Johan den Dunnen
00249744 CANVAS22 PubMed: Rafehi 2019 - M - Hungary - - 0 - - ataxia - 1 1 Johan den Dunnen
00249745 CANVAS23 PubMed: Rafehi 2019 - - - - - - 0 - - ataxia - 1 1 Johan den Dunnen
00334298 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334307 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334324 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334368 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334535 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334548 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334853 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00334860 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
00335043 - Liu submitted, 2021 analysis 233 patients - - China - - - - - virus, COVID-19 hospitalized after COVID-19 infection, 1 1 Liu Wenbing
Legend   How to query  

  Powered by LOVD v.3.0 Build 27
LOVD software ©2004-2021 Leiden University Medical Center 		There are currently no updates.