Full data view for gene AUH

Information The variants shown are described using the NM_001698.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 0_3i c.?-30_418-?del r.del p.? Paternal (inferred) - VUS g.94118165_94124201del g.93197014_93203050del - - AUH_000013 deletion of exons 1-3 PubMed: Mercimek-Mahmutoglu et al. 2011 - - Unknown ? - - - - DNA MLPA - - - - - - - - - - - - - - - -
?/? 0_3i c.?-30_418-?del r.del p.? Paternal (inferred) - VUS g.94118165_94124201del g.93197014_93203050del - - AUH_000013 deletion of exons 1-3 PubMed: Mercimek-Mahmutoglu et al. 2011 - - Unknown ? - - - - DNA MLPA - - - - - - - - - - - - - - - -
?/? 0_3i c.?-30_418-?del r.del p.? Maternal (inferred) - VUS g.94118165_94124201del g.93197014_93203050del - - AUH_000013 deletion of exons 1-3 PubMed: Mercimek-Mahmutoglu et al. 2011 - - Unknown ? - - - - DNA MLPA - - - - - - - - - - - - - - - -
?/? 0_3i c.?-30_418-?del r.del p.? Maternal (inferred) - VUS g.94118165_94124201del g.93197014_93203050del - - AUH_000013 deletion of exons 1-3 PubMed: Mercimek-Mahmutoglu et al. 2011 - - Unknown ? - - - - DNA MLPA - - - - - - - - - - - - - - - -
?/. - c.20C>T r.(?) p.(Ala7Val) Unknown - VUS g.94124152G>A g.91361870G>A AUH(NM_001698.2):c.20C>T (p.(Ala7Val)) - AUH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77G>A r.(?) p.(Cys26Tyr) Unknown - likely benign g.94124095C>T - AUH(NM_001306190.1):c.77G>A (p.(Cys26Tyr)) - AUH_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.80del r.(?) p.(Ser27MetfsTer8) Paternal (inferred) - pathogenic g.94124092del g.91361810del - - AUH_000006 this mutation causes a frameshift which leads to a premature stop PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 1 in PubMed: Ly 2003, Patient 4 in PubMed: Wortmann 2010 - M ? Lebanon - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 1 c.80del r.(?) p.(Ser27MetfsTer8) Maternal (inferred) - pathogenic g.94124092del g.91361810del - - AUH_000006 this mutation causes a frameshift which leads to a premature stop PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 1 in PubMed: Ly 2003, Patient 4 in PubMed: Wortmann 2010 - M ? Lebanon - - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.88C>T r.(?) p.(Leu30Phe) Unknown - likely benign g.94124084G>A - AUH(NM_001698.2):c.88C>T (p.(Leu30Phe)) - AUH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164T>C r.(?) p.(Val55Ala) Unknown - likely benign g.94124008A>G - AUH(NM_001698.2):c.164T>C (p.(Val55Ala)) - AUH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.178G>A r.(?) p.(Gly60Ser) Unknown - likely benign g.94123994C>T g.91361712C>T AUH(NM_001698.2):c.178G>A (p.G60S) - AUH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187C>A r.(?) p.(Pro63Thr) Unknown - likely benign g.94123985G>T g.91361703G>T AUH(NM_001698.2):c.187C>A (p.P63T) - AUH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.263-2A>G r.spl p.? Paternal (inferred) - pathogenic g.94118439T>C g.91356157T>C - - AUH_000009 - PubMed: Matsumori et al. 2005 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Shoji 1999, PubMed: Matsumori 2005, Patient 5 in PubMed: Wortmann 2010 - M ? Japan - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 1i c.263-2A>G r.spl p.? Maternal (inferred) - pathogenic g.94118439T>C g.91356157T>C - - AUH_000009 - PubMed: Matsumori et al. 2005 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Shoji 1999, PubMed: Matsumori 2005, Patient 5 in PubMed: Wortmann 2010 - M ? Japan - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.330+9A>G r.(=) p.(=) Unknown - VUS g.94118361T>C - AUH(NM_001698.3):c.330+9A>G - AUH_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331-20T>A r.(=) p.(=) Unknown - VUS g.94118272A>T g.91355990A>T AUH(NM_001698.2):c.331-20T>A (p.(=)) - AUH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381A>G r.(?) p.(Ile127Met) Unknown - VUS g.94118202T>C g.91355920T>C AUH(NM_001306190.1):c.381A>G (p.(Ile127Met)), AUH(NM_001698.2):c.381A>G (p.I127M) - AUH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.381A>G r.(?) p.(Ile127Met) Parent #1 - VUS g.94118202T>C g.91355920T>C - - AUH_000022 29 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146227896 Germline - 29/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 29 Mohammed Faruq
?/. - c.381A>G r.(?) p.(Ile127Met) Unknown - VUS g.94118202T>C - AUH(NM_001306190.1):c.381A>G (p.(Ile127Met)), AUH(NM_001698.2):c.381A>G (p.I127M) - AUH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405G>A r.(?) p.(Gly135=) Unknown - likely benign g.94118178C>T - AUH(NM_001698.2):c.405G>A (p.(=)) - AUH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.418+2T>C r.spl? p.? Unknown - likely pathogenic g.94118163A>G g.91355881A>G AUH(NM_001698.2):c.418+2T>C (p.?) - AUH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468T>G r.(?) p.(Pro156=) Unknown - likely benign g.94087637A>C - - - AUH_000037 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483A>C r.(=) p.(=) Parent #1 - likely benign g.94087622T>G g.91325340T>G - - AUH_000027 257 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7874056 Germline - 257/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 257 Mohammed Faruq
-?/. - c.483A>C r.(=) p.(=) Both (homozygous) - likely benign g.94087622T>G g.91325340T>G - - AUH_000027 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs7874056 Germline - 8/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.491T>C r.(?) p.(Val164Ala) Unknown - likely benign g.94087614A>G - AUH(NM_001351432.1):c.164T>C (p.V55A) - AUH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i c.505+1G>C r.spl p.? Unknown - likely pathogenic g.94087599C>G g.91325317C>G - - AUH_000028 no variant 2nd chromosome PubMed: Ganapathy 2019 - rs773652620 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2049 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.514C>T r.(?) p.(Pro172Ser) Unknown - VUS g.94060350G>A g.91298068G>A AUH(NM_001351432.1):c.187C>T (p.P63S) - AUH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.516dup r.(?) p.(Val173Serfs*17) Unknown - likely pathogenic g.94060348dup - AUH(NM_001698.2):c.516dup (p.(Val173Serfs*17)) - AUH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.559G>A r.(?) p.Gly187Ser Unknown - likely pathogenic g.94060305C>T g.91298023C>T - - AUH_000010 missense (unconfirmed) PubMed: Wortmann et al. 2010 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 1 in PubMed: Wortmann 2010, PubMed: Engelke 2006 - F ? Netherlands - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 5 c.589C>T r.(?) p.Arg197* Paternal (inferred) - likely pathogenic g.94060275G>A g.91297993G>A - - AUH_000005 - PubMed: IJlst et al. 2002 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 2 in PubMed: IJlst 2002, Patient 3 in PubMed: Ly 2003, Patient 10 in PubMed: Wortmann 2010 sibling of patient 9 in Wortmann et al. (2010) = patient 2 in Ly et al. (2003) M ? Morocco - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 5 c.589C>T r.(?) p.Arg197* Paternal (inferred) - pathogenic g.94060275G>A g.91297993G>A - - AUH_000005 - PubMed: IJlst et al. 2002 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 2 in PubMed: Ly 2003, Patient 9 in PubMed: Wortmann 2010 sibling of patient 2 in Ijlst et al. (2002) = patient 3 in Ly et al. (2003) = patient 10 in Wortmann et al. (2010) M ? Morocco - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 5 c.589C>T r.(?) p.Arg197* Maternal (inferred) - likely pathogenic g.94060275G>A g.91297993G>A - - AUH_000005 - PubMed: IJlst et al. 2002 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 2 in PubMed: IJlst 2002, Patient 3 in PubMed: Ly 2003, Patient 10 in PubMed: Wortmann 2010 sibling of patient 9 in Wortmann et al. (2010) = patient 2 in Ly et al. (2003) M ? Morocco - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 5 c.589C>T r.(?) p.Arg197* Maternal (inferred) - pathogenic g.94060275G>A g.91297993G>A - - AUH_000005 - PubMed: IJlst et al. 2002 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 2 in PubMed: Ly 2003, Patient 9 in PubMed: Wortmann 2010 sibling of patient 2 in Ijlst et al. (2002) = patient 3 in Ly et al. (2003) = patient 10 in Wortmann et al. (2010) M ? Morocco - - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.598+10A>C r.(=) p.(=) Unknown - likely benign g.94060256T>G g.91297974T>G AUH(NM_001306190.1):c.511+10A>C (p.(=)) - AUH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.613dup r.(?) p.(Met205AsnfsTer5) Unknown - pathogenic g.94058349dup g.91296067dup - - AUH_000008 insertion causes a frameshift that starts at Met205 and leads to the introduction of a stop codon after four amino acids PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 5 in PubMed: Ly 2003, PubMed: Gibson 1998, PubMed: Jooste 1994, Patient 7 in PubMed: Wortmann 2010 - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 6 c.620T>G r.(?) p.Leu207Arg Unknown - likely pathogenic g.94058338A>C g.91296056A>C - - AUH_000002 - Submitted by J. Zschocke - - Unknown ? - - - - DNA SEQ - - EDS - Submitted by J. Zschocke - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 6 c.650G>A r.(?) p.Gly217Asp Unknown - likely pathogenic g.94058308C>T g.91296026C>T - - AUH_000011 missense (unconfirmed) PubMed: Wortmann et al. 2010 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 1 in PubMed: Wortmann 2010, PubMed: Engelke 2006 - F ? Netherlands - - - - - 1 Division of Human Genetics, Innsbruck
+/. - c.650G>A r.(?) p.(Gly217Asp) Unknown - pathogenic g.94058308C>T - AUH(NM_001698.2):c.650G>A (p.(Gly217Asp)) - AUH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.655+7G>A r.(=) p.(=) Unknown - likely benign g.94058296C>T - AUH(NM_001698.3):c.655+7G>A - AUH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 7 c.676C>T r.(?) p.Arg226Cys Unknown - likely pathogenic g.93983254G>A g.91220972G>A - - AUH_000003 - Submitted by J. Zschocke - - Unknown ? - - - - DNA SEQ - - EDS - Submitted by J. Zschocke - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 7 c.719C>T r.(?) p.Ala240Val Paternal (inferred) - likely pathogenic g.93983211G>A g.91220929G>A - - AUH_000001 - PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - Submitted by J. Zschocke - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 7 c.719C>T r.(?) p.Ala240Val Maternal (inferred) - likely pathogenic g.93983211G>A g.91220929G>A - - AUH_000001 - PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - Submitted by J. Zschocke - M ? - - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 7 c.719C>T r.(?) p.Ala240Val Unknown - likely pathogenic g.93983211G>A g.91220929G>A - - AUH_000001 - PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 5 in PubMed: Ly 2003, PubMed: Gibson 1998, PubMed: Jooste 1994, Patient 7 in PubMed: Wortmann 2010 - F ? - - - - - - 1 Division of Human Genetics, Innsbruck
?/. - c.729C>T r.(?) p.(Leu243=) Unknown - VUS g.93983201G>A g.91220919G>A AUH(NM_001306190.1):c.642C>T (p.(Leu214=)) - AUH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.742G>A r.(?) p.(Ala248Thr) Parent #1 - likely pathogenic g.93983188C>T g.91220906C>T - - AUH_000026 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs755299132 Germline - 1/2786 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.784C>T r.(?) p.(Gln262Ter) Unknown - likely pathogenic g.93983146G>A g.91220864G>A AUH(NM_001698.2):c.784C>T (p.(Gln262Ter)) - AUH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807G>A r.(?) p.(=) Unknown - likely benign g.93983123C>T - AUH(NM_001306190.1):c.720G>A (p.(Arg240=)) - AUH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8i c.895-1G>A r.spl p.? Paternal (inferred) - pathogenic g.93978389C>T g.91216107C>T - - AUH_000004 - PubMed: IJlst et al. 2002 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Ensenauer 2000, Patient 1 in PubMed: IJlst 2002, Patient 6 in PubMed: Wortmann 2010 - M ? Afghanistan - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.895-1G>A r.spl p.? Paternal (inferred) - pathogenic g.93978389C>T g.91216107C>T - - AUH_000004 - PubMed: IJlst et al. 2002 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Eriguchi 2006, Patient 3 in PubMed: Wortmann 2010 - F yes - - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.895-1G>A r.spl p.? Maternal (inferred) - pathogenic g.93978389C>T g.91216107C>T - - AUH_000004 - PubMed: IJlst et al. 2002 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Ensenauer 2000, Patient 1 in PubMed: IJlst 2002, Patient 6 in PubMed: Wortmann 2010 - M ? Afghanistan - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 8i c.895-1G>A r.spl p.? Maternal (inferred) - pathogenic g.93978389C>T g.91216107C>T - - AUH_000004 - PubMed: IJlst et al. 2002 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Eriguchi 2006, Patient 3 in PubMed: Wortmann 2010 - F yes - - - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.897C>G r.(?) p.(Val299=) Unknown - likely benign g.93978386G>C g.91216104G>C AUH(NM_001698.2):c.897C>G (p.(=)) - AUH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.927A>G r.(?) p.(=) Unknown - likely benign g.93978356T>C - AUH(NM_001306190.1):c.840A>G (p.(Glu280=)) - AUH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.936T>C r.(?) p.(Tyr312=) Unknown - benign g.93978347A>G - AUH(NM_001306190.1):c.849T>C (p.(Tyr283=)) - AUH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9i c.943-2A>G r.spl p.? Paternal (inferred) - pathogenic g.93976709T>C g.91214427T>C - - AUH_000007 - PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Ensenauer 2000, PubMed: Ly 2003 - M ? Afghanistan - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9i c.943-2A>G r.spl p.? Paternal (inferred) - pathogenic g.93976709T>C g.91214427T>C - - AUH_000007 - PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Illsinger 2004, Patient 8 in PubMed: Wortmann 2010 - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9i c.943-2A>G r.spl p.? Maternal (inferred) - pathogenic g.93976709T>C g.91214427T>C - - AUH_000007 - PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Ensenauer 2000, PubMed: Ly 2003 - M ? Afghanistan - - - - - 1 Division of Human Genetics, Innsbruck
+/+ 9i c.943-2A>G r.spl p.? Maternal (inferred) - pathogenic g.93976709T>C g.91214427T>C - - AUH_000007 - PubMed: Ly et al. 2003 - - Unknown ? - - - - DNA SEQ - - EDS - PubMed: Illsinger 2004, Patient 8 in PubMed: Wortmann 2010 - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
-?/. - c.976C>A r.(?) p.(Leu326Ile) Unknown - likely benign g.93976674G>T - AUH(NM_001698.2):c.976C>A (p.(Leu326Ile)) - AUH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 10 c.991A>T r.(?) p.Lys331* Paternal (inferred) - likely pathogenic g.93976659T>A g.91214377T>A - - AUH_000012 nonsense, leads to aberrant protein, in which 8 terminal amino acid residues are missing PubMed: Wortmann et al. 2010 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 2 in PubMed: Wortmann 2010 - M yes United Kingdom (Great Britain) - - - - - 1 Division of Human Genetics, Innsbruck
+?/+? 10 c.991A>T r.(?) p.Lys331* Maternal (inferred) - likely pathogenic g.93976659T>A g.91214377T>A - - AUH_000012 nonsense, leads to aberrant protein, in which 8 terminal amino acid residues are missing PubMed: Wortmann et al. 2010 - - Unknown ? - - - - DNA SEQ - - EDS - Patient 2 in PubMed: Wortmann 2010 - M yes United Kingdom (Great Britain) - - - - - 1 Division of Human Genetics, Innsbruck
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.