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RUNX2 c.1019del ;(p.S340*)
Variant ID: 6-45480142-TC-T
NM_001024630.3(
RUNX2
):c.1019del;(p.S340*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Expression of FBXW11 in normal and disease-associated osteogenic cells.
Journal Of Cellular And Molecular Medicine
Dalle Carbonare, Luca L; Gomez Lira, Macarena M; Minoia, Arianna A; Bertacco, Jessica J; Orsi, Silvia S; Lauriola, Angela A; Li Vigni, Veronica V; Gandini, Alberto A; Antoniazzi, Franco F; Zipeto, Donato D; Mottes, Monica M; Bhandary, Lekhana L; Guardavaccaro, Daniele D; Valenti, Maria Teresa MT
Publication Date: 2023-05-17
Variant appearance in text: CCD: 1019del
PubMed Link:
37199076
Variant Present in the following documents:
Main text
JCMM-27-1580.pdf
View BVdb publication page
Fisetin: An Integrated Approach to Identify a Strategy Promoting Osteogenesis.
Frontiers In Pharmacology
Dalle Carbonare, Luca L; Bertacco, Jessica J; Gaglio, Salvatore Calogero SC; Minoia, Arianna A; Cominacini, Mattia M; Cheri, Samuele S; Deiana, Michela M; Marchetto, Giulia G; Bisognin, Anna A; Gandini, Alberto A; Antoniazzi, Franco F; Perduca, Massimiliano M; Mottes, Monica M; Valenti, Maria Teresa MT
Publication Date: 2022
Variant appearance in text: CCD: 1019del
PubMed Link:
35652047
Variant Present in the following documents:
Main text
fphar-13-890693.pdf
View BVdb publication page
Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.
International Journal Of Molecular Sciences
Dalle Carbonare, Luca L; Antoniazzi, Franco F; Gandini, Alberto A; Orsi, Silvia S; Bertacco, Jessica J; Li Vigni, Veronica V; Minoia, Arianna A; Griggio, Francesca F; Perduca, Massimiliano M; Mottes, Monica M; Valenti, Maria Teresa MT
Publication Date: 2021-09-25
Variant appearance in text: RUNX2: 1019del
PubMed Link:
34638677
Variant Present in the following documents:
Main text
ijms-22-10336.pdf
View BVdb publication page