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.




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