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.




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