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DMD c.9953_9954del ;(p.E3318Vfs*15)
Variant ID: X-31200874-ACT-A
NM_004006.2(
DMD
):c.9953_9954del;(p.E3318Vfs*15)
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:
Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.
Molecular Genetics & Genomic Medicine
Park, Joonhong J; Jang, Woori W; Han, Ji Yoon JY
Publication Date: 2019-09
Variant appearance in text: DMD: 9953_9954delAG; Glu3318Valfs*15
PubMed Link:
31347299
Variant Present in the following documents:
Main text
MGG3-7-e862.pdf
View BVdb publication page