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RUNX2 c.299_300delinsAA ;(p.R100Q)
Variant ID: 6-45390570-GC-AA
NM_001024630.3(
RUNX2
):c.299_300delinsAA;(p.R100Q)
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:
PROCEEDINGS OF THE XIX CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY: Bergamo, ItalyJune 05-08, 2019.
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Publication Date: 2019-06
Variant appearance in text: CCD: Arg100Gln
PubMed Link:
31309183
Variant Present in the following documents:
am-2019-02-45.pdf
View BVdb publication page
The sarcomeric M-region: a molecular command center for diverse cellular processes.
Biomed Research International
Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A
Publication Date: 2015
Variant appearance in text: CCD: R100Q
PubMed Link:
25961035
Variant Present in the following documents:
Main text
BMRI2015-714197.pdf
View BVdb publication page