DMD c.6364G>T ;(p.E2122*)

Variant ID: X-32235107-C-A

NM_004006.2(DMD):c.6364G>T;(p.E2122*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.

Plos One
Seferian, Andreea Mihaela AM; Moraux, Amélie A; Annoussamy, Mélanie M; Canal, Aurélie A; Decostre, Valérie V; Diebate, Oumar O; Le Moing, Anne-Gaëlle AG; Gidaro, Teresa T; Deconinck, Nicolas N; Van Parys, Frauke F; Vereecke, Wendy W; Wittevrongel, Sylvia S; Mayer, Michèle M; Maincent, Kim K; Desguerre, Isabelle I; Thémar-Noël, Christine C; Cuisset, Jean-Marie JM; Tiffreau, Vincent V; Denis, Severine S; Jousten, Virginie V; Quijano-Roy, Susana S; Voit, Thomas T; Hogrel, Jean-Yves JY; Servais, Laurent L
Publication Date: 2015

Variant appearance in text: DMD: 6364G>T
PubMed Link: 25643053
Variant Present in the following documents:
  • Main text
  • pone.0113999.pdf
View BVdb publication page