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FXN c.28G>A ;(p.A10T)
Variant ID: 9-71650726-G-A
NM_000144.4(
FXN
):c.28G>A;(p.A10T)
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:
Mutation Clusters from Cancer Exome.
Genes
Kakushadze, Zura Z; Yu, Willie W
Publication Date: 2017-08-15
Variant appearance in text: X25: A10T
PubMed Link:
28809811
Variant Present in the following documents:
Main text
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: FRDA: A10T
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Testing water-mediated DNA recognition by the Hin recombinase.
The Embo Journal
Chiu, Thang Kien TK; Sohn, Catherine C; Dickerson, Richard E RE; Johnson, Reid C RC
Publication Date: 2002-02-15
Variant appearance in text: X25: A10T
PubMed Link:
11847127
Variant Present in the following documents:
Main text
View BVdb publication page