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FXN c.142_143delinsAA ;(p.A48K)
Variant ID: 9-71650840-GC-AA
NM_000144.4(
FXN
):c.142_143delinsAA;(p.A48K)
This variant was identified in 1 publication
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: A48K
PubMed Link:
28809811
Variant Present in the following documents:
Main text
View BVdb publication page