Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification of pathogenic mutations of cardiomyopathies and channelopathies in more than 200 different genes. Since genes considered uncommon for a clinical phenotype are also now included in molecular testing, the...

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Detalles Bibliográficos
Autores principales: Mazzaccara, Cristina, Lombardi, Raffaella, Mirra, Bruno, Barretta, Ferdinando, Esposito, Maria Valeria, Uomo, Fabiana, Caiazza, Martina, Monda, Emanuele, Losi, Maria Angela, Limongelli, Giuseppe, D’Argenio, Valeria, Frisso, Giulia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9599286/
https://www.ncbi.nlm.nih.gov/pubmed/36291626
http://dx.doi.org/10.3390/biom12101417

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