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ADAR c.2280C>A ;(p.Y760*)
Variant ID: 1-154562876-G-T
NM_001111.4(
ADAR
):c.2280C>A;(p.Y760*)
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:
Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria.
Genetic Testing And Molecular Biomarkers
Tang, Zhuang-Li ZL; Wang, Shuang S; Tu, Chen C; Wang, Tian T; Ma, Cheng-Wen CW; Liu, Yan Y; Xiao, Sheng-Xiang SX; Wang, Xiao-Peng XP
Publication Date: 2018-02
Variant appearance in text: ADAR1: 2280C>A
PubMed Link:
29185800
Variant Present in the following documents:
Main text
gtmb.2017.0207.pdf
View BVdb publication page