Bibliome.ai browser hg19
Search
About
Stats
FAQ
DMD c.3721G>T ;(p.E1241*)
Variant ID: X-32466638-C-A
NM_004006.2(
DMD
):c.3721G>T;(p.E1241*)
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: 3721G>T; Glu1241Ter
PubMed Link:
30816495
Variant Present in the following documents:
Main text
mmr-19-04-3035.pdf
View BVdb publication page