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Article

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

Human genomics - 16 Sept 2024

Modena Martina, Giannoni Alberto, Aimo Alberto, Aretini Paolo, Botto Nicoletta, Vittorini Simona, Scatena Andrea, Bonuccelli Diana, Di Paolo Marco, Emdin Michele

Abstract excerpt

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. This study aimed to enhance the identification of likely causative variants in juvenile SCD cases (age ≤ 50 years),...

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Share to Autopsy
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Death, Sudden, Cardiac

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Share to Genetic Testing

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Source

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Identifiers

PMID: 39285490
DOI: 10.1186/s40246-024-00657-x
PMCID: PMC11407015

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