DMD c.10010G>A ;(p.C3337Y)

Variant ID: X-31198563-C-T

NM_004006.2(DMD):c.10010G>A;(p.C3337Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology
Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F
Publication Date: 2021

Variant appearance in text: DMD: 10010G>A; Cys3337Tyr
PubMed Link: 34149409
Variant Present in the following documents:
  • Main text
  • fphar-12-648390.pdf
View BVdb publication page



One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01

Variant appearance in text: DMD: 10010G>A; C3337Y
PubMed Link: 19959795
Variant Present in the following documents:
  • Main text
View BVdb publication page