All individuals with variants in gene ABCB11

15 entries on 1 page. Showing entries 1 - 15.
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Owner     
00228278 - - - ? - - - - 0 - - ? Cholestasis (HP:0001396); Degenerative liver disease (HP:0005237); Hepatitis (HP:0012115) 1 1 IMGAG
00292347 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 17 Mohammed Faruq
00292348 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 53 Mohammed Faruq
00292349 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 145 Mohammed Faruq
00292350 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 217 Mohammed Faruq
00304709 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304710 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304711 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00307439 Fam12PatLP17 PubMed: Stalke 2018 - - - Germany - - 0 - - PFIC characteristic phenotype (cholestatic liver disease, low gamma-glutamyltransferase) 2 1 Johan den Dunnen
00307440 Fam13PatLP95 PubMed: Stalke 2018 - - - Germany - - 0 - - PFIC characteristic phenotype (cholestatic liver cirrhosis, low gamma-glutamyltransferase) 1 1 Johan den Dunnen
00307656 NCU20 PubMed: Togawa 2016 - F - Japan - - 0 - - ? see paper; ... 2 1 Johan den Dunnen
00307657 NCU21 PubMed: Togawa 2016 - F - Japan - - 0 - - ? see paper; ... 2 1 Johan den Dunnen
00307658 NCU22 PubMed: Togawa 2016 - M - Japan - - 0 - - ? see paper; ... 2 1 Johan den Dunnen
00307659 NCU24 PubMed: Togawa 2016 - F - Japan - - 0 - - ? see paper; ... 2 1 Johan den Dunnen
00335721 patient PubMed: Altay 2020 2-generation family, patient’s father and mother are first cousins, mother has neurofibromatosis type 1 F yes Turkey - - 0 - - ? complex mixed phenotype of neurofibromatosis, cholestasis and failure to thrive caused by variants in 3 genes 1 1 Johan den Dunnen
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