DMD c.2317A>T ;(p.K773*)

Variant ID: X-32519935-T-A

NM_004006.2(DMD):c.2317A>T;(p.K773*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Long term treatment with ataluren-the Swedish experience.

Bmc Musculoskeletal Disorders
Michael, Eva E; Sofou, Kalliopi K; Wahlgren, Lisa L; Kroksmark, Anna-Karin AK; Tulinius, Már M
Publication Date: 2021-09-30

Variant appearance in text: DMD: Lys773*
PubMed Link: 34592975
Variant Present in the following documents:
  • Main text
  • 12891_2021_Article_4700.pdf
View BVdb publication page



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: 2317A>T; Lys773*
PubMed Link: 34149409
Variant Present in the following documents:
  • fphar-12-648390.pdf
View BVdb publication page