DMD c.10509_10510del ;(p.E3505Afs*9)

Variant ID: X-31187602-CCT-C

NM_004006.2(DMD):c.10509_10510del;(p.E3505Afs*9)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circulation. Genomic And Precision Medicine
Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J
Publication Date: 2018-01

Variant appearance in text: DMD: 10509_10510delAG
PubMed Link: 29874176
Variant Present in the following documents:
  • hcg-11-e001782-s001.pdf
View BVdb publication page



Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

Scientific Reports
Bello, Luca L; Campadello, Paola P; Barp, Andrea A; Fanin, Marina M; Semplicini, Claudio C; SorarĂ¹, Gianni G; Caumo, Luca L; Calore, Chiara C; Angelini, Corrado C; Pegoraro, Elena E
Publication Date: 2016-09-01

Variant appearance in text: DMD: 10507_10508delAG
PubMed Link: 27582364
Variant Present in the following documents:
  • Main text
  • srep32439.pdf
View BVdb publication page