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