TY  - GEN
AU  - Antoniutti, Guido
AU  - Caimi-Martinez, Fiama
AU  - Álvarez-Rubio, Jorge
AU  - Morlanes-Gracia, Paula
AU  - Pons Llinares, Jaume
AU  - Rodríguez-Picón, Blanca
AU  - Fortuny Frau, Elena
AU  - Torres-Juan, Laura
AU  - Heine-Suñer, Damián
AU  - Ripoll-Vera, Tomás
PY  - 2022
DO  - 10.3390/genes13020320
SN  - 2073-4425
UR  - https://hdl.handle.net/20.500.12105/23441
AB  - Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband's risk, as it allows the...
LA  - eng
KW  - NGS for diagnostics of CVDs
KW  - cardiomyopathies
KW  - cardiomyopathy
KW  - genetic
KW  - genetic testing
KW  - hypertrophic cardiomyopathy
KW  - next-generation sequencing
KW  - variant classification
KW  - variant interpretation
KW  - Cardiac Myosins
KW  - Phenotype
KW  - Death, Sudden
KW  - Sarcomeres
KW  - Humans
KW  - Cardiomyopathy, Hypertrophic
KW  - Genetic Association Studies
KW  - Myosin Heavy Chains
TI  - Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7
TY  - research article
ER  -