Article
Sport and exercise in genotype positive (+) phenotype negative (-) individuals: current dilemmas and future perspectives.
European journal of preventive cardiology - 12 Jul 2023
Paldino Alessia, Rossi Maddalena, Dal Ferro Matteo, Tavčar Irena, Behr Elijah, Sharma Sanjay, Papadakis Michael, Sinagra Gianfranco, Finocchiaro Gherardo
Abstract excerpt
Genotype positive-phenotype negative (GEN+PHEN-) individuals harbour a pathogenic or likely pathogenic variant without exhibiting a phenotypic manifestation of the disease. In the last few years, the widespread use of genetic testing in probands and relatives has increasingly led to the identification of these individuals, with emerging dilemmas regarding their clinical management. A genetic variant may exhibit a...
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