DMD c.7437G>A ;(p.W2479*)

Variant ID: X-31792182-C-T

NM_004006.2(DMD):c.7437G>A;(p.W2479*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.

The Application Of Clinical Genetics
Triana-Fonseca, Paula P; Parada-Márquez, Juan Fernando JF; Silva-Aldana, Claudia T CT; Zambrano-Arenas, Daniela D; Arias-Gomez, Laura Lucia LL; Morales-Fonseca, Natalia N; Medina-Méndez, Esteban E; Restrepo, Carlos M CM; Silgado-Guzmán, Daniel Felipe DF; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2021

Variant appearance in text: DMD: 7437G>A; Trp2479*
PubMed Link: 34629887
Variant Present in the following documents:
  • Main text
  • tacg-14-399.pdf
View BVdb publication page



The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders.

Frontiers In Cell And Developmental Biology
Cappella, Marisa M; Elouej, Sahar S; Biferi, Maria Grazia MG
Publication Date: 2021

Variant appearance in text: DMD: 7437G>A
PubMed Link: 33937264
Variant Present in the following documents:
  • Main text
View BVdb publication page



Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies?

Journal Of Neuromuscular Diseases
Kalra, Spandan S; Montanaro, Federica F; Denning, Chris C
Publication Date: 2016-08-30

Variant appearance in text: DMD: 7437G>A
PubMed Link: 27854224
Variant Present in the following documents:
  • Main text
  • jnd-3-jnd150133.pdf
View BVdb publication page