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MYBPC3 c.2780C>T ;(p.T927I)
Variant ID: 11-47356718-G-A
NM_000256.3(
MYBPC3
):c.2780C>T;(p.T927I)
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:
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.
Bmc Medical Genetics
Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR
Publication Date: 2012-03-19
Variant appearance in text: MYBPC3: 2780C>T
PubMed Link:
22429680
Variant Present in the following documents:
Main text
1471-2350-13-17.pdf
View BVdb publication page