DMD c.2977C>T ;(p.Q993*)

Variant ID: X-32486800-G-A

NM_004006.2(DMD):c.2977C>T;(p.Q993*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mini-dCas13X-mediated RNA editing restores dystrophin expression in a humanized mouse model of Duchenne muscular dystrophy.

The Journal Of Clinical Investigation
Li, Guoling G; Jin, Ming M; Li, Zhifang Z; Xiao, Qingquan Q; Lin, Jiajia J; Yang, Dong D; Liu, Yuanhua Y; Wang, Xing X; Xie, Long L; Ying, Wenqin W; Wang, Haoqiang H; Zuo, Erwei E; Shi, Linyu L; Wang, Ning N; Chen, Wanjin W; Xu, Chunlong C; Yang, Hui H
Publication Date: 2022-12-13

Variant appearance in text: DMD: 2977C>T; Gln993*
PubMed Link: 36512423
Variant Present in the following documents:
  • jci-133-162809-s211.pdf
  • jci-133-162809.pdf
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: 2977C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page