DMD c.2866C>T ;(p.Q956*)

Variant ID: X-32490364-G-A

NM_004006.2(DMD):c.2866C>T;(p.Q956*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 2866C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.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: 2866C>T; Gln956X
PubMed Link: 23756440
Variant Present in the following documents:
  • Main text
View BVdb publication page