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DMD c.3448G>T ;(p.E1150*)
Variant ID: X-32472934-C-A
NM_004006.2(
DMD
):c.3448G>T;(p.E1150*)
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:
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.
Frontiers In Physiology
Rossi, Rachele R; Falzarano, Maria Sofia MS; Osman, Hana H; Armaroli, Annarita A; Scotton, Chiara C; Mantuano, Paola P; Boccanegra, Brigida B; Cappellari, Ornella O; Schwartz, Elena E; Yuryev, Anton A; Mercuri, Eugenio E; Bertini, Enrico E; D'Amico, Adele A; Mora, Marina M; Johansson, Camilla C; Al-Khalili Szigyarto, Cristina C; De Luca, Annamaria A; Ferlini, Alessandra A
Publication Date: 2021
Variant appearance in text: DMD: E1150X
PubMed Link:
34305639
Variant Present in the following documents:
Main text
fphys-12-678974.pdf
View BVdb publication page