Bibliome.ai browser hg19
Search
About
Stats
FAQ
DMD c.4303G>T ;(p.E1435*)
Variant ID: X-32408229-C-A
NM_004006.2(
DMD
):c.4303G>T;(p.E1435*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cdc2-like kinases: structure, biological function, and therapeutic targets for diseases.
Signal Transduction And Targeted Therapy
Song, Mengqiu M; Pang, Luping L; Zhang, Mengmeng M; Qu, Yingzi Y; Laster, Kyle Vaughn KV; Dong, Zigang Z
Publication Date: 2023-04-07
Variant appearance in text: DMD: 4303G>T
PubMed Link:
37029108
Variant Present in the following documents:
41392_2023_Article_1409.pdf
View BVdb publication page
Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.
Life (Basel, Switzerland)
Niba, Emma Tabe Eko ETE; Awano, Hiroyuki H; Lee, Tomoko T; Takeshima, Yasuhiro Y; Shinohara, Masakazu M; Nishio, Hisahide H; Matsuo, Masafumi M
Publication Date: 2021-09-16
Variant appearance in text: DMD: 4303G>T
PubMed Link:
34575126
Variant Present in the following documents:
Main text
life-11-00978.pdf
View BVdb publication page
Development of an orally available inhibitor of CLK1 for skipping a mutated dystrophin exon in Duchenne muscular dystrophy.
Scientific Reports
Sako, Yukiya Y; Ninomiya, Kensuke K; Okuno, Yukiko Y; Toyomoto, Masayasu M; Nishida, Atsushi A; Koike, Yuka Y; Ohe, Kenji K; Kii, Isao I; Yoshida, Suguru S; Hashimoto, Naohiro N; Hosoya, Takamitsu T; Matsuo, Masafumi M; Hagiwara, Masatoshi M
Publication Date: 2017-05-30
Variant appearance in text: DMD: 4303G>T
PubMed Link:
28555643
Variant Present in the following documents:
Main text
View BVdb publication page
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.
Nature Communications
Nishida, Atsushi A; Kataoka, Naoyuki N; Takeshima, Yasuhiro Y; Yagi, Mariko M; Awano, Hiroyuki H; Ota, Mitsunori M; Itoh, Kyoko K; Hagiwara, Masatoshi M; Matsuo, Masafumi M
Publication Date: 2011
Variant appearance in text: DMD: 4303G>T; Glu1435X
PubMed Link:
21556062
Variant Present in the following documents:
Main text
ncomms1306.pdf
View BVdb publication page