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TG c.316_318delinsTGA ;(p.S106*)
Variant ID: 8-133883634-AGT-TGA
NM_003235.4(
TG
):c.316_318delinsTGA;(p.S106*)
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:
HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.
Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22
Variant appearance in text: TG: S106*
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.
Current Chemical Genomics And Translational Medicine
Aguisanda, Francis F; Thorne, Natasha N; Zheng, Wei W
Publication Date: 2017
Variant appearance in text: TG: S106X
PubMed Link:
28401034
Variant Present in the following documents:
Main text
CCGTM-11-1.pdf
View BVdb publication page