DMD c.1978_1979del ;(p.K660Efs*59)

Variant ID: X-32583831-CTT-C

NM_004006.2(DMD):c.1978_1979del;(p.K660Efs*59)

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: 1978_1979del; Lys660Glufs*59
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.

Bmc Medical Genetics
Zhang, Jingjing J; Ma, Dingyuan D; Liu, Gang G; Wang, Yuguo Y; Liu, An A; Li, Li L; Luo, Chunyu C; Hu, Ping P; Xu, Zhengfeng Z
Publication Date: 2019-11-14

Variant appearance in text: DMD: 1978_1979delAA; K660Efs*59
PubMed Link: 31727011
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_912.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: 1978_1979del; Lys660Glufs*59
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page