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DMD c.6428G>A ;(p.W2143*)
Variant ID: X-32235043-C-T
NM_004006.2(
DMD
):c.6428G>A;(p.W2143*)
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:
The landscape of driver mutations in cutaneous squamous cell carcinoma.
Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16
Variant appearance in text: DMD: W2143*
PubMed Link:
34272401
Variant Present in the following documents:
41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
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: 6428G>A; Trp2143Ter
PubMed Link:
32559196
Variant Present in the following documents:
Main text
pone.0232654.pdf
View BVdb publication page