Description of a Cohort with a New Truncating IMYBPC3/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...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Genes 2023, Vol.14 (4)
Hauptverfasser:	Fernández Suárez, Natalia, Viadero Ubierna, María Teresa, Garde Basas, Jesús, Onecha de la Fuente, María Esther, Amigo Lanza, María Teresa, Ma, Rivas Pérez, Adrián, Ruiz Guerrero, Luis, González-Lamuño, Domingo
Format:	Report
Sprache:	eng
Schlagworte:	Cardiomyopathy, Hypertrophic Development and progression
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!