Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

por Torrado, Mario, Maneiro, Emilia, Lamounier Junior, Arsonval, Fernández-Burriel, Miguel, Sánchez Giralt, Sara, Martínez-Carapeto, Ana, Cazón, Laura, Santiago, Elisa, Ochoa, Juan Pablo, McKenna, William J., Santomé, Luis, Monserrat, Lorenzo
Publicado 2022