All individuals with variants in gene COL17A1

6 entries on 1 page. Showing entries 1 - 6.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000023 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00081409 - Kay, submitted EJHG - - - Peru - - 0 - - HD - 1 1 Chris Kay
00164458 - - - M yes Iran - 03y 0 - - epidermolysis bullosa - 1 1 Amir Hossein Saeidian
00289987 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00295583 - - - M - - - - 0 - - ? Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00306211 111 - - F - China - - - - - epidermolysis bullosa, junctional, non-Herlitz type - 2 1 Sha Hong
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