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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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