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ABCB11 c.1954A>G ;(p.T652A)
Variant ID: 2-169825917-T-C
NM_003742.2(
ABCB11
):c.1954A>G;(p.T652A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations.
Ge Portuguese Journal Of Gastroenterology
Cardoso, Mariana Ferreira MF; E Branco, Joana Carvalho JC; Anapaz, Vera V; Rodrigues, Catarina Graça CG; Carvalho, Rita R; Horta, David D; Martins, Alexandra A; Reis, Jorge J
Publication Date: 2018-06
Variant appearance in text: ABCB11: 1954A>G
PubMed Link:
29998165
Variant Present in the following documents:
Main text
View BVdb publication page
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
World Journal Of Gastroenterology
Jirsa, Milan M; Bronský, Jiří J; Dvořáková, Lenka L; Šperl, Jan J; Šmajstrla, Vít V; Horák, Jiří J; Nevoral, Jiří J; Hřebíček, Martin M
Publication Date: 2014-05-21
Variant appearance in text: ABCB11: 1954A>G
PubMed Link:
24914347
Variant Present in the following documents:
Main text
View BVdb publication page