TY  - JOUR
AU  - Suay-Corredera, Carmen
AU  - Pricolo, Maria Rosaria
AU  - Herrero-Galán, Elías
AU  - Velázquez-Carreras, Diana
AU  - Sánchez-Ortiz, David
AU  - García-Giustiniani, Diego
AU  - Delgado, Javier
AU  - Galano-Frutos, Juan José
AU  - García-Cebollada, Helena
AU  - Vilches, Silvia
AU  - Domínguez, Fernando
AU  - Molina, María Sabater
AU  - Barriales-Villa, Roberto
AU  - Frisso, Giulia
AU  - Sancho, Javier
AU  - Serrano, Luis
AU  - García-Pavía, Pablo
AU  - Monserrat, Lorenzo
AU  - Alegre-Cebollada, Jorge
PY  - 2021
DO  - 10.1016/j.jbc.2021.100854
UR  - http://hdl.handle.net/20.500.12105/15169
AB  - Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the pathogenicity status of hundreds of MYBPC3...
LA  - eng
PB  - American Society of Biological Chemists
KW  - Cardiomyopathy, Hypertrophic
KW  - Carrier Proteins
KW  - Cytoskeletal Proteins
KW  - Female
KW  - Haploinsufficiency
KW  - Humans
KW  - Male
KW  - Molecular Dynamics Simulation
KW  - Mutation
KW  - Phenotype
KW  - RNA Splicing
TI  - Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
TY  - journal article
ER  -