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DMD c.3595G>T ;(p.E1199*)
Variant ID: X-32472787-C-A
NM_004006.2(
DMD
):c.3595G>T;(p.E1199*)
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:
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: 3595G>T; Glu1199Ter
PubMed Link:
32559196
Variant Present in the following documents:
Main text
pone.0232654.pdf
View BVdb publication page