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PC c.3041C>T ;(p.P1014L)
Variant ID: 11-66617188-G-A
NM_001040716.1(
PC
):c.3041C>T;(p.P1014L)
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:
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Bmc Gastroenterology
Li, Mingming M; Ma, Jing J; Wang, Wenlong W; Yang, Xu X; Luo, Kaizhong K
Publication Date: 2021-09-01
Variant appearance in text: PC: 3041C>T; Pro1014Leu
PubMed Link:
34470610
Variant Present in the following documents:
12876_2021_Article_1911.pdf
View BVdb publication page