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DMD c.1423G>T ;(p.E475*)
Variant ID: X-32632479-C-A
NM_004006.2(
DMD
):c.1423G>T;(p.E475*)
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:
Genetics and genomic medicine in Mali: challenges and future perspectives.
Molecular Genetics & Genomic Medicine
Landouré, Guida G; Samassékou, Oumar O; Traoré, Mahamadou M; Meilleur, Katherine G KG; Guinto, Cheick Oumar CO; Burnett, Barrington G BG; Sumner, Charlotte J CJ; Fischbeck, Kenneth H KH
Publication Date: 2016-03
Variant appearance in text: DMD: 1423G>T; Glu475X
PubMed Link:
27066513
Variant Present in the following documents:
Main text
View BVdb publication page