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MYBPC3 c.577_578delinsGC ;(p.K193A)
Variant ID: 11-47371401-TT-GC
NM_000256.3(
MYBPC3
):c.577_578delinsGC;(p.K193A)
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:
Determination of the critical residues responsible for cardiac myosin binding protein C's interactions.
Journal Of Molecular And Cellular Cardiology
Bhuiyan, Md Shenuarin MS; Gulick, James J; Osinska, Hanna H; Gupta, Manish M; Robbins, Jeffrey J
Publication Date: 2012-12
Variant appearance in text: cMyBP-C: K193A
PubMed Link:
22982234
Variant Present in the following documents:
Main text
View BVdb publication page