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SCN5A c.31A>G ;(p.S11G)
Variant ID: 3-38674768-T-C
NM_000335.4(
SCN5A
):c.31A>G;(p.S11G)
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:
Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes.
Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Dastidar, Sumitava S; Majumdar, Debanjana D; Tipanee, Jaitip J; Singh, Kshitiz K; Klein, Arnaud F AF; Furling, Denis D; Chuah, Marinee K MK; VandenDriessche, Thierry T
Publication Date: 2022-01-05
Variant appearance in text: SCN5A: S11G
PubMed Link:
34371182
Variant Present in the following documents:
mmc16.pdf
main.pdf
View BVdb publication page
METHYLTRANSFERASE1 and Ripening Modulate Vivipary during Tomato Fruit Development.
Plant Physiology
Yao, Mengqin M; Chen, Weiwei W; Kong, Junhua J; Zhang, Xinlian X; Shi, Nongnong N; Zhong, Silin S; Ma, Ping P; Gallusci, Philippe P; Jackson, Stephen S; Liu, Yule Y; Hong, Yiguo Y
Publication Date: 2020-08
Variant appearance in text: HB1: S11G
PubMed Link:
32503901
Variant Present in the following documents:
Main text
View BVdb publication page