DMD c.3220G>T ;(p.E1074*)

Variant ID: X-32482759-C-A

NM_004006.2(DMD):c.3220G>T;(p.E1074*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.

Balkan Journal Of Medical Genetics : Bjmg
Chamova, T T; Guergueltcheva, V V; Raycheva, M M; Todorov, T T; Genova, J J; Bichev, S S; Bojinova, V V; Mitev, V V; Tournev, I I; Todorova, A A
Publication Date: 2013-06

Variant appearance in text: DMD: 3220G>T
PubMed Link: 24265581
Variant Present in the following documents:
  • Main text
  • bjmg-16-01-21.pdf
View BVdb publication page



Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

European Journal Of Human Genetics : Ejhg
Wei, Xiaoming X; Dai, Yi Y; Yu, Ping P; Qu, Ning N; Lan, Zhangzhang Z; Hong, Xiafei X; Sun, Yan Y; Yang, Guanghui G; Xie, Shuqi S; Shi, Quan Q; Zhou, Hanlin H; Zhu, Qian Q; Chu, Yuxing Y; Yao, Fengxia F; Wang, Jinming J; He, Jingni J; Yang, Yun Y; Liang, Yu Y; Yang, Yi Y; Qi, Ming M; Yang, Ling L; Wang, Wei W; Wu, Haitao H; Duan, Jing J; Shen, Cheng C; Wang, Jun J; Cui, Liying L; Yi, Xin X
Publication Date: 2014-01

Variant appearance in text: DMD: 3220G>T; Glu1074X
PubMed Link: 23756440
Variant Present in the following documents:
  • Main text
View BVdb publication page