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DMD c.2833C>T ;(p.Q945*)
Variant ID: X-32490397-G-A
NM_004006.2(
DMD
):c.2833C>T;(p.Q945*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Frontiers In Genetics
Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y
Publication Date: 2019
Variant appearance in text: DMD: 2833C>T; Gln945Ter
PubMed Link:
30833962
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.
Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09
Variant appearance in text: DMD: 2833C>T; Gln945X
PubMed Link:
29604111
Variant Present in the following documents:
Main text
View BVdb publication page