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Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death

Abstract Background Juvenile sudden cardiac death (SCD) remains unexplained in approximately 40% of cases, leading to a significant emotional burden for the victims’ families and society. Comprehensive investigations are essential to uncover its elusive causes and enable cascade family screening. Th...

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Hoofdauteurs: Martina Modena, Alberto Giannoni, Alberto Aimo, Paolo Aretini, Nicoletta Botto, Simona Vittorini, Andrea Scatena, Diana Bonuccelli, Marco Di Paolo, Michele Emdin
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMC 2024-09-01
Reeks:Human Genomics
Onderwerpen:
Sudden cardiac death
Genetic
Molecular autopsy
NGS
Cardiomyopathy
Arrhythmia
Online toegang:https://doi.org/10.1186/s40246-024-00657-x
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