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DMD c.16G>A ;(p.E6K)
Variant ID: X-33229414-C-T
NM_004006.2(
DMD
):c.16G>A;(p.E6K)
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:
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Plos One
Babić Božović, Ivana I; Maver, Aleš A; Leonardis, Lea L; Meznaric, Marija M; Osredkar, Damjan D; Peterlin, Borut B
Publication Date: 2021
Variant appearance in text: DMD: 16G>A; Glu6Lys
PubMed Link:
34106991
Variant Present in the following documents:
Main text
View BVdb publication page