Bibliome.ai browser hg19
Search
About
Stats
FAQ
FXN c.142_144delinsTGT ;(p.A48C)
Variant ID: 9-71650840-GCG-TGT
NM_000144.4(
FXN
):c.142_144delinsTGT;(p.A48C)
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:
An Overview of the Current State and the Future of Ataxia Treatments.
Neurologic Clinics
Kwei, Kimberly Tsu KT; Kuo, Sheng-Han SH
Publication Date: 2020-05
Variant appearance in text: FXN: A48C
PubMed Link:
32279720
Variant Present in the following documents:
Main text
View BVdb publication page
Mutation Clusters from Cancer Exome.
Genes
Kakushadze, Zura Z; Yu, Willie W
Publication Date: 2017-08-15
Variant appearance in text: X25: A48C
PubMed Link:
28809811
Variant Present in the following documents:
Main text
genes-08-00201.pdf
View BVdb publication page