All individuals with variants in gene PEX5

17 entries on 1 page. Showing entries 1 - 17.
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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     
00274154 Pat20 PubMed: Pronicka 2016 no family history M - Poland - - 0 - - ? mitochondrial disease criteria score 4 2 1 Johan den Dunnen
00290794 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00290795 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 147 Mohammed Faruq
00304379 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00309933 PBD018/2-05 PubMed: Dodt 1995, PubMed: Shimozawa 1999 - - - United States Middle East - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309935 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309936 PBD005/2-01 PubMed: Dodt 1995, PubMed: Shimozawa 1999 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309937 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 3 1 Nancy Braverman
00309938 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309939 S-03 PubMed: Shimozawa 1999 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309941 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309943 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309944 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309945 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309946 - PubMed: Ebberink 2008 2 patients - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309947 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309948 - PubMed: Ebberink 2008 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
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