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RUNX2 c.578_579delinsAT ;(p.R193H)
Variant ID: 6-45399754-GA-AT
NM_001024630.3(
RUNX2
):c.578_579delinsAT;(p.R193H)
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:
Sarcomere neutralization in inherited cardiomyopathy: small-molecule proof-of-concept to correct hyper-Ca2+-sensitive myofilaments.
American Journal Of Physiology. Heart And Circulatory Physiology
Thompson, Brian R BR; Martindale, Joshua J; Metzger, Joseph M JM
Publication Date: 2016-07-01
Variant appearance in text: CCD: R193H
PubMed Link:
27199134
Variant Present in the following documents:
Main text
View BVdb publication page
Measurement of calcium dissociation rates from troponin C in rigor skeletal myofibrils.
Frontiers In Physiology
Little, Sean C SC; Tikunova, Svetlana B SB; Norman, Catalina C; Swartz, Darl R DR; Davis, Jonathan P JP
Publication Date: 2011
Variant appearance in text: CCD: R193H
PubMed Link:
22013424
Variant Present in the following documents:
fphys-02-00070.pdf
View BVdb publication page