DMD c.4483C>T ;(p.Q1495*)

Variant ID: X-32407653-G-A

NM_004006.2(DMD):c.4483C>T;(p.Q1495*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DMD: 4483C>T; Gln1495Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 4483C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02

Variant appearance in text: DMD: 4483C>T; Gln1495*
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



The Duchenne muscular dystrophy gene and cancer.

Cellular Oncology (Dordrecht)
Jones, Leanne L; Naidoo, Michael M; Machado, Lee R LR; Anthony, Karen K
Publication Date: 2021-02

Variant appearance in text: DMD: 4483C>T
PubMed Link: 33188621
Variant Present in the following documents:
  • 13402_2020_Article_572.pdf
View BVdb publication page



Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04

Variant appearance in text: DMD: 4483C>T; Gln1495*
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
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: 4483C>T; Gln1495X
PubMed Link: 25612904
Variant Present in the following documents:
  • Main text
  • 13023_2014_Article_220.pdf
View BVdb publication page