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DMD c.2591del ;(p.T864Kfs*7)
Variant ID: X-32509425-TG-T
NM_004006.2(
DMD
):c.2591del;(p.T864Kfs*7)
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:
Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.
Frontiers In Neuroscience
Gan, Siyi S; Liu, Shulei S; Yang, Haiyan H; Wu, Liwen L
Publication Date: 2022
Variant appearance in text: DMD: 2591delC; T864Kfs
PubMed Link:
36419457
Variant Present in the following documents:
Main text
fnins-16-992546.pdf
View BVdb publication page
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: 2591delC
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: 2591delC
PubMed Link:
26911353
Variant Present in the following documents:
Main text
jhg20167a.pdf
View BVdb publication page