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DMD c.5485C>T ;(p.Q1829*)
Variant ID: X-32364161-G-A
NM_004006.2(
DMD
):c.5485C>T;(p.Q1829*)
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:
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: 5485C>T; Gln1829X
PubMed Link:
25612904
Variant Present in the following documents:
Main text
13023_2014_Article_220.pdf
View BVdb publication page