MYBPC3 c.572G>T ;(p.W191L)

Variant ID: 11-47371407-C-A

NM_000256.3(MYBPC3):c.572G>T;(p.W191L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: MYBPC3: 572G>T; W191L
PubMed Link: 28771489
Variant Present in the following documents:
  • Main text
  • pone.0181465.s002.xlsx, sheet 1
  • pone.0181465.pdf
View BVdb publication page