DMD c.5485C>T ;(p.Q1829*)

Variant ID: X-32364161-G-A

NM_004006.2(DMD):c.5485C>T;(p.Q1829*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 5485C>T; Gln1829X
PubMed Link: 25612904
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_220.pdf
View BVdb publication page