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Description of a Cohort with a New Truncating MYBPC3 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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Detalles Bibliográficos
Autores principales:	Fernández Suárez, Natalia, Viadero Ubierna, María Teresa, Garde Basas, Jesús, Onecha de la Fuente, María Esther, Amigo Lanza, María Teresa, Martin Gorria, Gonzalo, Rivas Pérez, Adrián, Ruiz Guerrero, Luis, González-Lamuño, Domingo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137663/ https://www.ncbi.nlm.nih.gov/pubmed/37107598 http://dx.doi.org/10.3390/genes14040840

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