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ABCB4 c.3258C>A ;(p.Y1086*)
Variant ID: 7-87037374-G-T
NM_000443.3(
ABCB4
):c.3258C>A;(p.Y1086*)
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 BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.
Jhep Reports : Innovation In Hepatology
Biyoukar, Moustafa M; Corpechot, Christophe C; El Mouhadi, Sanaâ S; Chambenois, Edouard E; Vanderbecq, Quentin Q; Barbu, Véronique V; Dong, Catherine C; Lemoinne, Sara S; Tordjman, Mickael M; Jomaah, Raphel R; Chazouilleres, Olivier O; Arrivé, Lionel L
Publication Date: 2022-11
Variant appearance in text: ABCB4: 3258C>A; Tyr1086*
PubMed Link:
36277956
Variant Present in the following documents:
mmc1.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: 3258C>A
PubMed Link:
35741809
Variant Present in the following documents:
Main text
genes-13-01047.pdf
View BVdb publication page