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GAA c.941A>C ;(p.N314T)
Variant ID: 17-78081681-A-C
NM_000152.3(
GAA
):c.941A>C;(p.N314T)
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: 941A>C; N314T
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.
Neurosciences (Riyadh, Saudi Arabia)
Alfadhel, Majid M; Nashabat, Marwan M; Abu Ali, Qais Q; Hundallah, Khalid K
Publication Date: 2017-01
Variant appearance in text: GAA: 941A>C
PubMed Link:
28064324
Variant Present in the following documents:
Main text
View BVdb publication page