Bibliome.ai browser hg19
Search
About
Stats
FAQ
DMD c.240A>G ;(p.A80=)
Variant ID: X-32862924-T-C
NM_004006.2(
DMD
):c.240A>G;(p.A80=)
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:
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
Human Mutation
Ling, Chao C; Dai, Yi Y; Fang, Li L; Yao, Fengxia F; Liu, Zhe Z; Qiu, Zhengqing Z; Cui, Liying L; Xia, Fan F; Zhao, Chen C; Zhang, Shuyang S; Wang, Kai K; Zhang, Xue X
Publication Date: 2020-03
Variant appearance in text: DMD: A80A
PubMed Link:
31705731
Variant Present in the following documents:
Main text
View BVdb publication page
A pan-cancer analysis of synonymous mutations.
Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12
Variant appearance in text: DMD: 240A>G
PubMed Link:
31189880
Variant Present in the following documents:
41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page