All individuals with variants in gene SLC5A5

16 entries on 1 page. Showing entries 1 - 16.
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AscendingIndividual ID     

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Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00292064 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 183 Mohammed Faruq
00304649 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
00311015 FamPatII1 PubMed: Fujiwara 1997 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Japan - - 0 - - TDH see paper; ..., 1 1 Johan den Dunnen
00311017 patient PubMed: Matsuda 1997 4-generation family, 1 affected, unaffected parents M yes Japan - - 0 - - TDH see paper; ... 1 1 Johan den Dunnen
00311019 patient PubMed: Pohlenz 1997 3-generation family, 1 affected, unaffected heterozygous carrier mother/son M - Brazil - - 0 - - TDH see paper; ... 1 1 Johan den Dunnen
00311021 patient 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives {PMID:Pohlenz 1998:9486973} F no - mexico, Hispanic - 0 - - TDH see paper; ... 2 1 Johan den Dunnen
00311024 FamAPat1 PubMed: Kosugi 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - TDH see paper; ... 2 1 Johan den Dunnen
00311025 FamBPat2 PubMed: Kosugi 1998 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Japan - - 0 - - TDH see paper; ... 1 1 Johan den Dunnen
00311027 family PubMed: Kosugi 1999 large 6-generation family, 16 affected (11F, 5M) F;M yes Canada Hutterite - 0 - - TDH - 1 16 Johan den Dunnen
00311032 Family PubMed: Kosugi 2002 2-generation family, 2 affected sibs, unaffected heterozygous carrier mother/relatives F;M - Spain - - 0 - - TDH see paper; ... 1 2 Johan den Dunnen
00311050 patient PubMed: Tonacchera 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - 0 - - TDH see paper; ... 1 1 Johan den Dunnen
00311053 patient PubMed: Montanelli 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Italy - - 0 - - TDH see paper; ... 1 1 Johan den Dunnen
00311054 patient PubMed: Szinnai 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Cameroon - - 0 - - TDH see paper; ... 1 1 Johan den Dunnen
00311057 family PubMed: Fujiwara 2000 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F;M ? Japan - - 0 - - TDH see paper; ... 2 1 Johan den Dunnen
00311058 patient PubMed: Nicola 2011 2-generation family, 1 affected, unaffected heterozygous carrier mother/relatives M - Argentina - - 0 - - TDH see paper; ... 1 1 Johan den Dunnen
00311059 patient PubMed: Liang 2005 - - - Taiwan - - 0 - - ? see paper; ... 1 1 Johan den Dunnen
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