Bibliome.ai browser hg19
Search
About
Stats
FAQ
PC c.2755C>T ;(p.Q919*)
Variant ID: 11-66617551-G-A
NM_001040716.1(
PC
):c.2755C>T;(p.Q919*)
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: 2755C>T
PubMed Link:
34470610
Variant Present in the following documents:
12876_2021_Article_1911.pdf
View BVdb publication page