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TYR c.245_246delinsAA ;(p.S82*)
Variant ID: 11-88911366-CC-AA
NM_000372.4(
TYR
):c.245_246delinsAA;(p.S82*)
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:
Zinc and the iron donor frataxin regulate oligomerization of the scaffold protein to form new Fe-S cluster assembly centers.
Metallomics : Integrated Biometal Science
Galeano, B K BK; Ranatunga, W W; Gakh, O O; Smith, D Y DY; Thompson, J R JR; Isaya, G G
Publication Date: 2017-06-21
Variant appearance in text: TYR: S82*
PubMed Link:
28548666
Variant Present in the following documents:
Main text
View BVdb publication page