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GAA c.935T>C ;(p.L312P)
Variant ID: 17-78081675-T-C
NM_000152.3(
GAA
):c.935T>C;(p.L312P)
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: GAA: 935T>C
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Genome scale analysis of pathogenic variants targetable for single base editing.
Bmc Medical Genomics
Lavrov, Alexander V AV; Varenikov, Georgi G GG; Skoblov, Mikhail Yu MY
Publication Date: 2020-09-18
Variant appearance in text: GAA: 935T>C
PubMed Link:
32948190
Variant Present in the following documents:
12920_2020_735_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page