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ABCB4 c.2476G>C ;(p.G826R)
Variant ID: 7-87047855-C-G
NM_000443.3(
ABCB4
):c.2476G>C;(p.G826R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Scientific Reports
Zöllner, Julia J; Finer, Sarah S; Linton, Kenneth J KJ; , ; van Heel, David A DA; Williamson, Catherine C; Dixon, Peter H PH
Publication Date: 2023-05-19
Variant appearance in text: ABCB4: Gly826Arg
PubMed Link:
37208429
Variant Present in the following documents:
Main text
41598_2023_Article_33391.pdf
View BVdb publication page