DMD c.1837A>T ;(p.K613*)

Variant ID: X-32583974-T-A

NM_004006.2(DMD):c.1837A>T;(p.K613*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: DMD: 1837A>T
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics
Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y
Publication Date: 2019

Variant appearance in text: DMD: 1837A>T; Lys613Ter
PubMed Link: 30833962
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page