DMD c.5488A>T ;(p.R1830*)

Variant ID: X-32364158-T-A

NM_004006.2(DMD):c.5488A>T;(p.R1830*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and genetic characteristics of female dystrophinopathy carriers.

Molecular Medicine Reports
Zhong, Jingzi J; Xie, Yanshu Y; Bhandari, Vidata V; Chen, Gang G; Dang, Yiwu Y; Liao, Haixia H; Zhang, Jiapeng J; Lan, Dan D
Publication Date: 2019-04

Variant appearance in text: DMD: 5488A>T; Arg1830Ter
PubMed Link: 30816495
Variant Present in the following documents:
  • Main text
  • mmr-19-04-3035.pdf
View BVdb publication page