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DMD c.11041A>T ;(p.R3681*)
Variant ID: X-31144764-T-A
NM_004006.2(
DMD
):c.11041A>T;(p.R3681*)
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:
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08
Variant appearance in text: DMD: 11041A>T; R3681X
PubMed Link:
33860439
Variant Present in the following documents:
12035_2021_2377_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
Plos One
Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2020
Variant appearance in text: DMD: Arg3681*
PubMed Link:
32813700
Variant Present in the following documents:
Main text
View BVdb publication page