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DMD c.3843G>A ;(p.W1281*)
Variant ID: X-32459375-C-T
NM_004006.2(
DMD
):c.3843G>A;(p.W1281*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 3843G>A; Trp1281*
PubMed Link:
32813700
Variant Present in the following documents:
Main text
pone.0237803.pdf
View BVdb publication page
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.
Scientific Reports
Bello, Luca L; Campadello, Paola P; Barp, Andrea A; Fanin, Marina M; Semplicini, Claudio C; SorarĂ¹, Gianni G; Caumo, Luca L; Calore, Chiara C; Angelini, Corrado C; Pegoraro, Elena E
Publication Date: 2016-09-01
Variant appearance in text: DMD: 3843G>A; Trp1281*
PubMed Link:
27582364
Variant Present in the following documents:
Main text
srep32439.pdf
View BVdb publication page
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01
Variant appearance in text: DMD: 3843G>A; W1281X
PubMed Link:
19959795
Variant Present in the following documents:
Main text
View BVdb publication page