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DMD c.7348dup ;(p.V2450Gfs*3)
Variant ID: X-31792270-A-AC
NM_004006.2(
DMD
):c.7348dup;(p.V2450Gfs*3)
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:
Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.
The Indian Journal Of Medical Research
Aravind, Sankaramoorthy S; Ashley, Berty B; Mannan, Ashraf A; Ganapathy, Aparna A; Ramesh, Keerthi K; Ramachandran, Aparna A; Nongthomba, Upendra U; Shastry, Arun A
Publication Date: 2019-09
Variant appearance in text: DMD: 7348dupG
PubMed Link:
31719299
Variant Present in the following documents:
Main text
IJMR-150-282.pdf
View BVdb publication page
Carrier detection in Duchenne muscular dystrophy using molecular methods.
The Indian Journal Of Medical Research
Sakthivel Murugan, S M SM; Arthi, C C; Thilothammal, N N; Lakshmi, B R BR
Publication Date: 2013-06
Variant appearance in text: DMD: 7348dupG
PubMed Link:
23852291
Variant Present in the following documents:
Main text
IJMR-137-1102.pdf
View BVdb publication page