DMD c.7513del ;(p.D2505Ifs*5)

Variant ID: X-31792105-TC-T

NM_004006.2(DMD):c.7513del;(p.D2505Ifs*5)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Corrigendum: Off-Label Use of Ataluren in Four Non-ambulatory Patients With Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength.

Frontiers In Pediatrics
Ebrahimi-Fakhari, Daniel D; Dillmann, Ulrich U; Flotats-Bastardas, Marina M; Poryo, Martin M; Abdul-Khaliq, Hashim H; Shamdeen, Mohammed Ghiath MG; Mischo, Bernhard B; Zemlin, Michael M; Meyer, Sascha S
Publication Date: 2019

Variant appearance in text: DMD: 7513delG; Asp2505IlefsX5
PubMed Link: 31404150
Variant Present in the following documents:
  • fped-07-00284.pdf
View BVdb publication page



Off-Label Use of Ataluren in Four Non-ambulatory Patients With Nonsense Mutation Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength.

Frontiers In Pediatrics
Ebrahimi-Fakhari, Daniel D; Dillmann, Ulrich U; Flotats-Bastardas, Marina M; Poryo, Martin M; Abdul-Khaliq, Hashim H; Shamdeen, Mohammed Ghiath MG; Mischo, Bernhard B; Zemlin, Michael M; Meyer, Sascha S
Publication Date: 2018

Variant appearance in text: DMD: 7513delG; Asp2505IlefsX5
PubMed Link: 30406066
Variant Present in the following documents:
  • Main text
  • fped-06-00316.pdf
View BVdb publication page