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