DMD c.3613del ;(p.E1205Kfs*10)

Variant ID: X-32466746-TC-T

NM_004006.2(DMD):c.3613del;(p.E1205Kfs*10)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Frontiers In Genetics
Keegan, Niall P NP; Wilton, Steve D SD; Fletcher, Sue S
Publication Date: 2022

Variant appearance in text: DMD: 3613delG
PubMed Link: 35754842
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
View BVdb publication page



Pseudoexons of the DMD Gene.

Journal Of Neuromuscular Diseases
Keegan, Niall P NP
Publication Date: 2020

Variant appearance in text: DMD: 3613delG
PubMed Link: 32176650
Variant Present in the following documents:
  • Main text
  • jnd-7-jnd190431.pdf
View BVdb publication page



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: 3613delG
PubMed Link: 29874176
Variant Present in the following documents:
  • hcg-11-e001782-s001.pdf
View BVdb publication page



Development of an orally available inhibitor of CLK1 for skipping a mutated dystrophin exon in Duchenne muscular dystrophy.

Scientific Reports
Sako, Yukiya Y; Ninomiya, Kensuke K; Okuno, Yukiko Y; Toyomoto, Masayasu M; Nishida, Atsushi A; Koike, Yuka Y; Ohe, Kenji K; Kii, Isao I; Yoshida, Suguru S; Hashimoto, Naohiro N; Hosoya, Takamitsu T; Matsuo, Masafumi M; Hagiwara, Masatoshi M
Publication Date: 2017-05-30

Variant appearance in text: DMD: 3613delG
PubMed Link: 28555643
Variant Present in the following documents:
  • Main text
  • srep46126.pdf
View BVdb publication page



Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.

Nature Communications
Nishida, Atsushi A; Kataoka, Naoyuki N; Takeshima, Yasuhiro Y; Yagi, Mariko M; Awano, Hiroyuki H; Ota, Mitsunori M; Itoh, Kyoko K; Hagiwara, Masatoshi M; Matsuo, Masafumi M
Publication Date: 2011

Variant appearance in text: DMD: 3613delG
PubMed Link: 21556062
Variant Present in the following documents:
  • Main text
View BVdb publication page