DMD c.6550A>T ;(p.K2184*)

Variant ID: X-31986520-T-A

NM_004006.2(DMD):c.6550A>T;(p.K2184*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Bmc Medical Genetics
Kong, Xiangdong X; Zhong, Xingjian X; Liu, Lina L; Cui, Siying S; Yang, Yuxia Y; Kong, Lingrong L
Publication Date: 2019-08-14

Variant appearance in text: DMD: 6550A>T; Lys2184*
PubMed Link: 31412794
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_873.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: 6550A>T; Lys2184X
PubMed Link: 23756440
Variant Present in the following documents:
  • Main text
View BVdb publication page