DMD c.4583del ;(p.Q1528Rfs*18)

Variant ID: X-32404518-CT-C

NM_004006.2(DMD):c.4583del;(p.Q1528Rfs*18)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02

Variant appearance in text: DMD: 4583delA; Gln1528Argfs*18
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Bmc Medical Genetics
Kong, Xiangdong X; Zhong, Xingjian X; Liu, Lina L; Cui, Siying S; Yang, Yuxia Y; Kong, Lingrong L
Publication Date: 2019-08-14

Variant appearance in text: DMD: 4583delA
PubMed Link: 31412794
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_873.pdf
View BVdb publication page



Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04

Variant appearance in text: DMD: 4583delA; Gln1528Argfs*18
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page