DMD c.8929_8932del ;(p.K2977Sfs*11)

Variant ID: X-31496227-ACTTT-A

NM_004006.2(DMD):c.8929_8932del;(p.K2977Sfs*11)

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:

Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.

Balkan Journal Of Medical Genetics : Bjmg
Chamova, T T; Guergueltcheva, V V; Raycheva, M M; Todorov, T T; Genova, J J; Bichev, S S; Bojinova, V V; Mitev, V V; Tournev, I I; Todorova, A A
Publication Date: 2013-06

Variant appearance in text: DMD: 8929_8932delAAAG
PubMed Link: 24265581
Variant Present in the following documents:
  • Main text
  • bjmg-16-01-21.pdf
View BVdb publication page