DMD c.2077C>T ;(p.Q693*)

Variant ID: X-32563367-G-A

NM_004006.2(DMD):c.2077C>T;(p.Q693*)

This variant was identified in 3 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: 2077C>T; Gln693Ter
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: 2077C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?

Therapeutic Advances In Neurological Disorders
Ruggiero, Lucia L; Iodice, Rosa R; Esposito, Marcello M; Dubbioso, Raffaele R; Tozza, Stefano S; Vitale, Floriana F; Santoro, Lucio L; Manganelli, Fiore F
Publication Date: 2018

Variant appearance in text: DMD: Q693X
PubMed Link: 30542376
Variant Present in the following documents:
  • Main text
  • 10.1177_1756286418809588.pdf
View BVdb publication page