DMD c.2974C>T ;(p.Q992*)

Variant ID: X-32486803-G-A

NM_004006.2(DMD):c.2974C>T;(p.Q992*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

Plos One
Taylor, Peter J PJ; Betts, Grant A GA; Maroulis, Sarah S; Gilissen, Christian C; Pedersen, Robyn L RL; Mowat, David R DR; Johnston, Heather M HM; Buckley, Michael F MF
Publication Date: 2010-01-20

Variant appearance in text: DMD: 2974C>T; Gln992X
PubMed Link: 20098710
Variant Present in the following documents:
  • Main text
  • pone.0008803.pdf
View BVdb publication page