Description of a Cohort with a New Truncating <i>MYBPC3</i> Variant for Hypertrophic Cardiomyopathy in Northern Spain

Description of a Cohort with a New Truncating <i>MYBPC3</i> Variant for Hypertrophic Cardiomyopathy in Northern Spain

Background: The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants in the sarcomeri...

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Bibliographic Details
Main Authors: Natalia Fernández Suárez, María Teresa Viadero Ubierna, Jesús Garde Basas, María Esther Onecha de la Fuente, María Teresa Amigo Lanza, Gonzalo Martin Gorria, Adrián Rivas Pérez, Luis Ruiz Guerrero, Domingo González-Lamuño
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
hypertrophic cardiomyopathy
<i>MYBPC3</i>
genotype-phenotype
sarcomeric gene variant
Online Access:https://www.mdpi.com/2073-4425/14/4/840

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https://www.mdpi.com/2073-4425/14/4/840

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