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ABCB4 c.2318G>T ;(p.G773V)
Variant ID: 7-87049390-C-A
NM_000443.3(
ABCB4
):c.2318G>T;(p.G773V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The Etiology of Cholelithiasis in Children and Adolescents-A Literature Review.
International Journal Of Molecular Sciences
Zdanowicz, Katarzyna K; Daniluk, Jaroslaw J; Lebensztejn, Dariusz Marek DM; Daniluk, Urszula U
Publication Date: 2022-11-02
Variant appearance in text: ABCB4: 2318G>T
PubMed Link:
36362164
Variant Present in the following documents:
Main text
ijms-23-13376.pdf
View BVdb publication page
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Genes
Wang, Helen H HH; Portincasa, Piero P; Liu, Min M; Wang, David Q-H DQ
Publication Date: 2022-06-11
Variant appearance in text: ABCB4: 2318G>T
PubMed Link:
35741809
Variant Present in the following documents:
Main text
genes-13-01047.pdf
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: ABCB4: 2318G>T
PubMed Link:
24914347
Variant Present in the following documents:
Main text
View BVdb publication page