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RUNX2 c.1387_1388delinsTG ;(p.D463C)
Variant ID: 6-45514863-GA-TG
NM_001024630.3(
RUNX2
):c.1387_1388delinsTG;(p.D463C)
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:
Structure of a mitochondrial fission dynamin in the closed conformation.
Nature Structural & Molecular Biology
Bohuszewicz, Olga O; Low, Harry H HH
Publication Date: 2018-08
Variant appearance in text: CCD: D463C
PubMed Link:
30061604
Variant Present in the following documents:
Main text
emss-78391.pdf
View BVdb publication page