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ABCB4 c.2405G>A ;(p.W802*)
Variant ID: 7-87047926-C-T
NM_000443.3(
ABCB4
):c.2405G>A;(p.W802*)
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: 2405G>A; Trp802*
PubMed Link:
36277956
Variant Present in the following documents:
mmc1.pdf
View BVdb publication page
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Jhep Reports : Innovation In Hepatology
Dong, Catherine C; Condat, Bertrand B; Picon-Coste, Magalie M; Chrétien, Yves Y; Potier, Pascal P; Noblinski, Béatrice B; Arrivé, Lionel L; Hauuy, Marie-Pierre MP; Barbu, Véronique V; Maftouh, Anware A; Gaouar, Farid F; Ben Belkacem, Karima K; Housset, Chantal C; Poupon, Raoul R; Zanditenas, David D; Chazouillères, Olivier O; Corpechot, Christophe C
Publication Date: 2021-04
Variant appearance in text: ABCB4: Trp802*
PubMed Link:
33554096
Variant Present in the following documents:
mmc1.pdf
View BVdb publication page