All individuals with variants in gene SLC3A1

18 entries on 1 page. Showing entries 1 - 18.
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VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000023 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00292755 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00311072 020 - - M yes - - - - - - CSNU - 1 1 Malak Alghamdi
00311075 003 - - M yes - - - - - - CSNU - 1 1 Malak Alghamdi
00414475 WHP142 PubMed: Sun 2018 - F - China - - - - - ? - 1 1 LOVD
00434657 PatN6 PubMed: Chen 2022 - F - United States African-American - - - - NDD see paper; ..., 6m-developmental delay; 3y-walk, uses ankle foot orthotics; intellectual disability, no speech; intellectual disability; developmental delay; no learning disability; no attention deficit hyperactivity disorder; no seizures; no spasticity; no hypertonia; no hypotonia; dystonia; no open mouth; no drooling; no meningomyelocele; no polymicrogyria ; no pachygyria; no enlarged cisterna magna; facial asymmetry; epicanthal fold ; dysmorphic ears; asthma; no joint hypermobility; no scoliosis; no vertebral segmentation defect; no narrow chest; no talipes equinovarus; no clinodactyly; no umbilical hernia; no imperforated anus ; no rectovaginal fistula; no single kidney; MRI brain polymicrogyria and pachygyria 1 1 Johan den Dunnen
00454656 Fam1PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 36w cesarean section (breech), weight 2,6g, length 44cm; <9y-puberty 1 1 Johan den Dunnen
00454657 Fam2PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 41w induction, weight 3,51g, length 50.5cm; <9y-puberty 1 1 Johan den Dunnen
00454658 Fam8PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - France - - - - - CSNU see paper; ..., birth 41w, weight 3,97g, length 52cm 1 2 Johan den Dunnen
00454659 Fam3PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 40w cesarean section (breech), weight 3,6g, length 50cm; 13.1y-puberty 1 1 Johan den Dunnen
00454660 Fam7PatI PubMed: Jaeken 2006 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth 40w induction, weight 2,8g, length 49cm; 13.4y-puberty 2 2 Johan den Dunnen
00454661 Fam6PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Belgium - - - - - CSNU see paper; ..., birth weight 3,5 2 1 Johan den Dunnen
00454662 Fam7PatII PubMed: Jaeken 2006 relative F - Belgium - - - - - CSNU see paper; ..., birth 40w, weight 2,89g; 12.5y-puberty 2 1 Johan den Dunnen
00454663 Fam4PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - CSNU see paper; ..., birth 40w cesarean section, weight 3,25g, length 52cm; 13.7y-puberty 1 1 Johan den Dunnen
00454664 Fam8PatII PubMed: Jaeken 2006 relative F - France - - - - - CSNU see paper; ..., birth 41w, weight 2,88g, length 49cm; primary amenorrea 1 1 Johan den Dunnen
00454665 Fam9PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - CSNU see paper; ..., birth 41w, weight 3,45g, length 51cm; 15y-puberty 2 1 Johan den Dunnen
00454666 Fam5PatI PubMed: Jaeken 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - - - - - CSNU see paper; ..., birth weight 1,91g; 5y-puberty 1 1 Johan den Dunnen
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