Litcius/Paper detail

Cryptic Splice-Altering Variants in <i>MYBPC3</i> Are a Prevalent Cause of Hypertrophic Cardiomyopathy

Luís R. Lopes, Pedro Barbosa, Mario Torrado, Ellie Quinn, Ana de Prada Merino, Juan Pablo Ochoa, Joanna Jager, Marta Futema, Maria Carmo‐Fonseca, Lorenzo Monserrat, Petros Syrris, Perry Elliott

2020Circulation Genomic and Precision Medicine40 citationsDOIOpen Access PDF

Abstract

Research letter

Topics & Concepts

MedicineCardiomyopathyHypertrophic cardiomyopathyInternal medicineHeart failureCardiomyopathy and Myosin StudiesNuclear Structure and FunctionCellular transport and secretion