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.




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