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.




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