DMD c.9938G>T ;(p.C3313F)

Variant ID: X-31200891-C-A

NM_004006.2(DMD):c.9938G>T;(p.C3313F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The ZZ domain of dystrophin in DMD: making sense of missense mutations.

Human Mutation
Vulin, Adeline A; Wein, Nicolas N; Strandjord, Dana M DM; Johnson, Eric K EK; Findlay, Andrew R AR; Maiti, Baijayanta B; Howard, Michael T MT; Kaminoh, Yuuki J YJ; Taylor, Laura E LE; Simmons, Tabatha R TR; Ray, Will C WC; Montanaro, Federica F; Ervasti, Jim M JM; Flanigan, Kevin M KM
Publication Date: 2014-02

Variant appearance in text: DMD: 9938G>T; Cys3313Phe
PubMed Link: 24302611
Variant Present in the following documents:
  • Main text
View BVdb publication page



ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site.

The Biochemical Journal
Hnia, Karim K; Zouiten, Dora D; Cantel, Sonia S; Chazalette, Delphine D; Hugon, GĂ©rald G; Fehrentz, Jean-Alain JA; Masmoudi, Ahmed A; Diment, Ann A; Bramham, Janice J; Mornet, Dominique D; Winder, Steve J SJ
Publication Date: 2007-02-01

Variant appearance in text: DMD: C3313F
PubMed Link: 17009962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rapid direct sequence analysis of the dystrophin gene.

American Journal Of Human Genetics
Flanigan, Kevin M KM; von Niederhausern, Andrew A; Dunn, Diane M DM; Alder, Jonathan J; Mendell, Jerry R JR; Weiss, Robert B RB
Publication Date: 2003-04

Variant appearance in text: DMD: Cys3313Phe
PubMed Link: 12632325
Variant Present in the following documents:
  • Main text
View BVdb publication page