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SCN5A c.31_32delinsGA ;(p.S11D)
Variant ID: 3-38674767-CT-TC
NM_000335.4(
SCN5A
):c.31_32delinsGA;(p.S11D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Anodic SnO2 Nanoporous Structure Decorated with Cu2O Nanoparticles for Sensitive Detection of Creatinine: Experimental and DFT Study.
Acs Omega
Ullah, Habib H; Ahmad, Rashid R; Khan, Adnan Ali AA; Lee, Na Eun NE; Lee, Jaewoo J; Shah, Atta Ullah AU; Khan, Maaz M; Ali, Tahir T; Ali, Ghafar G; Khan, Qasim Q; Cho, Sung Oh SO
Publication Date: 2022-11-22
Variant appearance in text: ICCD: S11d
PubMed Link:
36440133
Variant Present in the following documents:
Main text
View BVdb publication page
Poly-dipeptides produced from C9orf72 hexanucleotide repeats cause selective motor neuron hyperexcitability in ALS.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Jo, Yunhee Y; Lee, Jiwon J; Lee, Seul-Yi SY; Kwon, Ilmin I; Cho, Hana H
Publication Date: 2022-03-15
Variant appearance in text: Nav1.5: S11D
PubMed Link:
35259014
Variant Present in the following documents:
pnas.202113813.pdf
View BVdb publication page
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: S11D
PubMed Link:
34371182
Variant Present in the following documents:
Main text
View BVdb publication page