SMN1 c.113C>G ;(p.A38G)

Variant ID: 5-70234697-C-G

NM_000344.3(SMN1):c.113C>G;(p.A38G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Potential of CRISPR/Cas9 Gene Editing as a Treatment Strategy for Inherited Diseases.

Frontiers In Cell And Developmental Biology
Abdelnour, Sameh A SA; Xie, Long L; Hassanin, Abdallah A AA; Zuo, Erwei E; Lu, Yangqing Y
Publication Date: 2021

Variant appearance in text: SMA: A38G
PubMed Link: 34977000
Variant Present in the following documents:
  • Main text
View BVdb publication page



Base editing-mediated splicing correction therapy for spinal muscular atrophy.

Cell Research
Lin, Xiang X; Chen, Haizhu H; Lu, Ying-Qian YQ; Hong, Shunyan S; Hu, Xinde X; Gao, Yanxia Y; Lai, Lu-Lu LL; Li, Jin-Jing JJ; Wang, Zishuai Z; Ying, Wenqin W; Ma, Lixiang L; Wang, Ning N; Zuo, Erwei E; Yang, Hui H; Chen, Wan-Jin WJ
Publication Date: 2020-06

Variant appearance in text: SMA: A38G
PubMed Link: 32210360
Variant Present in the following documents:
  • Main text
View BVdb publication page