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ABCB4 c.2471T>C ;(p.V824A)
Variant ID: 7-87047860-A-G
NM_000443.3(
ABCB4
):c.2471T>C;(p.V824A)
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:
Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China.
Frontiers In Medicine
Cheng, Jinlin J; Gong, Ling L; Mi, Xiaoxiao X; Wu, Xiangyan X; Zheng, Jun J; Yang, Wenjun W
Publication Date: 2022
Variant appearance in text: ABCB4: 2471T>C
PubMed Link:
36569137
Variant Present in the following documents:
Main text
fmed-09-962408.pdf
View BVdb publication page