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DMD c.160_162del ;(p.L54del)
Variant ID: X-32867868-CGAG-C
NM_004006.2(
DMD
):c.160_162del;(p.L54del)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Journal Of Human Genetics
Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I
Publication Date: 2017-10
Variant appearance in text: DMD: 160_162delCTC; Leu54del
PubMed Link:
28943641
Variant Present in the following documents:
10038_2017_Article_BFjhg201754.pdf
View BVdb publication page
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Journal Of Human Genetics
Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I
Publication Date: 2016-06
Variant appearance in text: DMD: 160_162delCTC; Leu54del
PubMed Link:
26911353
Variant Present in the following documents:
Main text
jhg20167a.pdf
View BVdb publication page
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01
Variant appearance in text: DMD: L54del
PubMed Link:
19959795
Variant Present in the following documents:
Main text
View BVdb publication page