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DMD c.1033C>T ;(p.Q345*)
Variant ID: X-32663197-G-A
NM_004006.2(
DMD
):c.1033C>T;(p.Q345*)
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:
Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.
Nature Communications
Yamagishi, Makoto M; Kubokawa, Miyuki M; Kuze, Yuta Y; Suzuki, Ayako A; Yokomizo, Akari A; Kobayashi, Seiichiro S; Nakashima, Makoto M; Makiyama, Junya J; Iwanaga, Masako M; Fukuda, Takahiro T; Watanabe, Toshiki T; Suzuki, Yutaka Y; Uchimaru, Kaoru K
Publication Date: 2021-08-10
Variant appearance in text: DMD: Q345X
PubMed Link:
34376672
Variant Present in the following documents:
41467_2021_25101_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
The Genomic Landscape of Actinic Keratosis.
The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07
Variant appearance in text: DMD: 1033C>T; Q345*
PubMed Link:
33482222
Variant Present in the following documents:
mmc1.xlsx, sheet 4
View BVdb publication page
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.
Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09
Variant appearance in text: DMD: 1033C>T; Gln345X
PubMed Link:
29604111
Variant Present in the following documents:
Main text
View BVdb publication page
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
Orphanet Journal Of Rare Diseases
Li, Xihua X; Zhao, Lei L; Zhou, Shuizhen S; Hu, Chaoping C; Shi, Yiyun Y; Shi, Wei W; Li, Hui H; Liu, Fang F; Wu, Bingbing B; Wang, Yi Y
Publication Date: 2015-01-23
Variant appearance in text: DMD: 1033C>T; Gln345X
PubMed Link:
25612904
Variant Present in the following documents:
Main text
13023_2014_Article_220.pdf
View BVdb publication page