Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics

Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics

Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which...

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Main Authors: Maria Gnazzo, Giovanni Parlapiano, Francesca Di Lorenzo, Daniele Perrino, Silvia Genovese, Valentina Lanari, Daniela Righi, Federica Calì, Massimo Stefano Silvetti, Elena Falcone, Alessia Bauleo, Fabrizio Drago, Antonio Novelli, Anwar Baban
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Biomolecules
Subjects:
channelopathies
copy number variants
long QT
Brugada
catecholaminergic polymorphic ventricular tachycardia
Online Access:https://www.mdpi.com/2218-273X/14/11/1450
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