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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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