DMD c.436C>T ;(p.Q146*)

Variant ID: X-32834679-G-A

NM_004006.2(DMD):c.436C>T;(p.Q146*)

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: 436C>T; Gln146*
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.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: 436C>T; Gln146*
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page



MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

Bmc Medical Genetics
Yang, Juan J; Li, Shao Y SY; Li, Ya Q YQ; Cao, Ji Q JQ; Feng, Shan W SW; Wang, Yan Y YY; Zhan, Yi X YX; Yu, Chang S CS; Chen, Fei F; Li, Jing J; Sun, Xiao F XF; Zhang, Cheng C
Publication Date: 2013-03-01

Variant appearance in text: DMD: 436C>T; Gln146X
PubMed Link: 23453023
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-29.pdf
View BVdb publication page