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DMD c.7265del ;(p.A2422Efs*6)
Variant ID: X-31838136-TG-T
NM_004006.2(
DMD
):c.7265del;(p.A2422Efs*6)
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:
Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.
Frontiers In Neuroscience
Gan, Siyi S; Liu, Shulei S; Yang, Haiyan H; Wu, Liwen L
Publication Date: 2022
Variant appearance in text: DMD: 7265delC; A2422Efs
PubMed Link:
36419457
Variant Present in the following documents:
Main text
fnins-16-992546.pdf
View BVdb publication page
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.
European Journal Of Human Genetics : Ejhg
Wei, Xiaoming X; Dai, Yi Y; Yu, Ping P; Qu, Ning N; Lan, Zhangzhang Z; Hong, Xiafei X; Sun, Yan Y; Yang, Guanghui G; Xie, Shuqi S; Shi, Quan Q; Zhou, Hanlin H; Zhu, Qian Q; Chu, Yuxing Y; Yao, Fengxia F; Wang, Jinming J; He, Jingni J; Yang, Yun Y; Liang, Yu Y; Yang, Yi Y; Qi, Ming M; Yang, Ling L; Wang, Wei W; Wu, Haitao H; Duan, Jing J; Shen, Cheng C; Wang, Jun J; Cui, Liying L; Yi, Xin X
Publication Date: 2014-01
Variant appearance in text: DMD: 7265delC; Ala2422GlufsX6
PubMed Link:
23756440
Variant Present in the following documents:
Main text
View BVdb publication page