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.




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