DMD c.5542A>T ;(p.K1848*)

Variant ID: X-32364104-T-A

NM_004006.2(DMD):c.5542A>T;(p.K1848*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.

Plos One
Kumar, Shalini H SH; Athimoolam, Kalpana K; Suraj, Manikandan M; Das Christu Das, Mary Shoba MS; Muralidharan, Aparna A; Jeyam, Divya D; Ashokan, Jaicy J; Karthikeyan, Priya P; Krishna, Ragav R; Khanna-Gupta, Arati A; Bremadesam Raman, Lakshmi L
Publication Date: 2020

Variant appearance in text: DMD: 5542A>T; Lys1848Ter
PubMed Link: 32559196
Variant Present in the following documents:
  • Main text
  • pone.0232654.pdf
View BVdb publication page