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DMD c.9204C>A ;(p.N3068K)
Variant ID: X-31341735-G-T
NM_004006.2(
DMD
):c.9204C>A;(p.N3068K)
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:
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: N3068K
PubMed Link:
34305639
Variant Present in the following documents:
Main text
fphys-12-678974.pdf
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: DMD: N3068K
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: N3068K
PubMed Link:
19959795
Variant Present in the following documents:
Main text
View BVdb publication page