DMD c.7471C>T ;(p.Q2491*)

Variant ID: X-31792148-G-A

NM_004006.2(DMD):c.7471C>T;(p.Q2491*)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?

Therapeutic Advances In Neurological Disorders
Ruggiero, Lucia L; Iodice, Rosa R; Esposito, Marcello M; Dubbioso, Raffaele R; Tozza, Stefano S; Vitale, Floriana F; Santoro, Lucio L; Manganelli, Fiore F
Publication Date: 2018

Variant appearance in text: DMD: 7471C>T
PubMed Link: 30542376
Variant Present in the following documents:
  • Main text
  • 10.1177_1756286418809588.pdf
View BVdb publication page