DMD c.6045del ;(p.E2015Dfs*24)

Variant ID: X-32328270-GT-G

NM_004006.2(DMD):c.6045del;(p.E2015Dfs*24)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 6045delA
PubMed Link: 29604111
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Orphanet Journal Of Rare Diseases
Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y
Publication Date: 2015-01-23

Variant appearance in text: DMD: 6045delA
PubMed Link: 25612904
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_220.pdf
View BVdb publication page