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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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