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DMD c.3603+1G>A
Variant ID: X-32472778-C-T
NM_004006.2(
DMD
):c.3603+1G>A
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:
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: 3603+1G>A
PubMed Link:
30816495
Variant Present in the following documents:
Main text
mmr-19-04-3035.pdf
View BVdb publication page
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Plos One
Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2013
Variant appearance in text: DMD: 3603+1G>A
PubMed Link:
23536893
Variant Present in the following documents:
Main text
View BVdb publication page