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DMD c.1412del ;(p.T471Kfs*16)
Variant ID: X-32632490-TG-T
NM_004006.2(
DMD
):c.1412del;(p.T471Kfs*16)
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: 1412delC; Thr471Lysfs*16
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: 1412delC; Thr471Lysfs*16
PubMed Link:
29973226
Variant Present in the following documents:
13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
Orphanet Journal Of Rare Diseases
Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y
Publication Date: 2015-01-23
Variant appearance in text: DMD: 1412delC
PubMed Link:
25612904
Variant Present in the following documents:
Main text
13023_2014_Article_220.pdf
View BVdb publication page