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DMD c.5488A>T ;(p.R1830*)
Variant ID: X-32364158-T-A
NM_004006.2(
DMD
):c.5488A>T;(p.R1830*)
This variant was identified in 1 publication
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 female dystrophinopathy carriers.
Molecular Medicine Reports
Zhong, Jingzi J; Xie, Yanshu Y; Bhandari, Vidata V; Chen, Gang G; Dang, Yiwu Y; Liao, Haixia H; Zhang, Jiapeng J; Lan, Dan D
Publication Date: 2019-04
Variant appearance in text: DMD: 5488A>T; Arg1830Ter
PubMed Link:
30816495
Variant Present in the following documents:
Main text
mmr-19-04-3035.pdf
View BVdb publication page