All individuals with variants in gene PEX13

9 entries on 1 page. Showing entries 1 - 9.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00309923 H-01 PubMed: Shimozawa 1999, PubMed: Shimozawa 1998 - - - Japan - - 0 - - PBD see paper; ..., relatively mild phenotype, neonatal adrenoleukodys- trophy 1 1 Nancy Braverman
00309924 H-02 PubMed: Shimozawa 1999 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309925 PBD-HR11 PubMed: Krause 2006 - F - Turkey - - 0 - - PBD see paper; ..., cerebral hypotonia, cataract; caudal neuropore, inverted nipples; progressive clinical course; 31m-died 1 1 Nancy Braverman
00309926 Pat2 PubMed: Al-Dirbashi - M yes Saudi Arabia - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309927 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309928 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309929 - PubMed: Ebberink 2011 2 patients - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309930 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309931 Pat1 PubMed: Al-Dirbashi - M yes Saudi Arabia - - 0 - - PBD see paper; ... 1 1 Johan den Dunnen
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