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DMD c.15del ;(p.E6Kfs*2)
Variant ID: X-33229414-CT-C
NM_004006.2(
DMD
):c.15del;(p.E6Kfs*2)
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:
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
Human Mutation
Gurvich, Olga L OL; Maiti, Baijayanta B; Weiss, Robert B RB; Aggarwal, Gaurav G; Howard, Michael T MT; Flanigan, Kevin M KM
Publication Date: 2009-04
Variant appearance in text: DMD: 14delA
PubMed Link:
19206170
Variant Present in the following documents:
Main text
View BVdb publication page