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ABCB4 c.1537G>A ;(p.E513K)
Variant ID: 7-87069538-C-T
NM_000443.3(
ABCB4
):c.1537G>A;(p.E513K)
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:
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: 1537G>A
PubMed Link:
35741809
Variant Present in the following documents:
Main text
genes-13-01047.pdf
View BVdb publication page