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DMD c.10624_10625del ;(p.P3542Sfs*2)
Variant ID: X-31165563-AGG-A
NM_004006.2(
DMD
):c.10624_10625del;(p.P3542Sfs*2)
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:
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: 10624_10625del; Pro3542SerfsX2
PubMed Link:
23536893
Variant Present in the following documents:
Main text
pone.0059916.pdf
View BVdb publication page