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MYBPC3 c.773_776del ;(p.E258Afs*41)
Variant ID: 11-47369453-GGCCT-G
NM_000256.3(
MYBPC3
):c.773_776del;(p.E258Afs*41)
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:
Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.
Gene
Carrier, Lucie L; Mearini, Giulia G; Stathopoulou, Konstantina K; Cuello, Friederike F
Publication Date: 2015-12-01
Variant appearance in text: MYBPC3: Glu258fsX41
PubMed Link:
26358504
Variant Present in the following documents:
Main text
View BVdb publication page