Bibliome.ai browser hg19
Search
About
Stats
FAQ
DMD c.184dup ;(p.L62Pfs*27)
Variant ID: X-32867846-A-AG
NM_004006.2(
DMD
):c.184dup;(p.L62Pfs*27)
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: 184dup
PubMed Link:
34106991
Variant Present in the following documents:
Main text
View BVdb publication page