All individuals with variants in gene PEX2

30 entries on 1 page. Showing entries 1 - 30.
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00294668 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00295225 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
00309953 Pat637 PubMed: Steinberg 2004 - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309954 Pat3 PubMed: Gootjes 2004 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309955 PatMM/F-01 PubMed: Shimozawa 1992 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Japan - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309956 Pat628 PubMed: Steinberg 2004 - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309957 Pat657 PubMed: Steinberg 2004 - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309958 Pat661 PubMed: Steinberg 2004 - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309959 patient PubMed: Shimozawa 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Japan - - 0 - - PBD see paper; ... 2 1 Nancy Braverman
00309960 PatF-05 PubMed: Imamura 1998 - - - Japan - - 0 - - PBD see paper; ... 2 1 Nancy Braverman
00309961 Pat639 PubMed: Steinberg 2004 - - - United States - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309962 Z3 PubMed: Shimozawa 1993 - - - Netherlands - - 0 - - PBD see paper; ... 1 1 Johan den Dunnen
00309963 PatF-06 PubMed: Shimozawa 2000 - - - Japan - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309964 PatF-08 PubMed: Shimozawa 2000 - - - Japan - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309965 Pat4 PubMed: Gootjes 2004 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309966 Pat2 PubMed: Gootjes 2004 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309967 Pat1 PubMed: Gootjes 2004 - - - - - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309968 control PubMed: Steinberg 2004 - - - - - - 0 - - Healthy/Control - 1 1 Nancy Braverman
00309969 PBD-HR1 PubMed: Krause 2006 - F - Turkey - 00y02m 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309970 PBD-HR2/3 PubMed: Krause 2006 2 patients (F, M) F;M - Turkey - - 0 - - PBD see paper; ... 1 2 Nancy Braverman
00309971 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Shandi Hiebler
00309972 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Shandi Hiebler
00309973 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Shandi Hiebler
00309974 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Shandi Hiebler
00309975 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Shandi Hiebler
00309976 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Shandi Hiebler
00309977 - PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Shandi Hiebler
00309978 Pat1/2 PubMed: Sevin 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M no France - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
00309979 patient PubMed: Mignarri 2012 - M - Italy - - 0 - - ? see paper; ..., childhood-onset cerebellar ataxia and an axonal sensorimotor polyneuropathy 2 1 Johan den Dunnen
00310099 patient PubMed: Konkolova 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Slovakia (Slovak Republic) white - 0 - - PBD see paper; ... 1 1 Johan den Dunnen
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