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RUNX2 c.257_258delinsAC ;(p.A86D)
Variant ID: 6-45390528-CG-AC
NM_001024630.3(
RUNX2
):c.257_258delinsAC;(p.A86D)
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:
Inhibition of acid sphingomyelinase disrupts LYNUS signaling and triggers autophagy.
Journal Of Lipid Research
Justice, Matthew J MJ; Bronova, Irina I; Schweitzer, Kelly S KS; Poirier, Christophe C; Blum, Janice S JS; Berdyshev, Evgeny V EV; Petrache, Irina I
Publication Date: 2018-04
Variant appearance in text: CCD: A86D
PubMed Link:
29378782
Variant Present in the following documents:
Main text
View BVdb publication page