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September 16, 2024Human Genomics13 citationsOpen Access

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

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MMMartina ModenaAGAlberto GiannoniAAAlberto Aimo

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Abstract

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), particularly when autopsy findings are inconclusive.

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Cite This Study

Modena et al. (2024) studied this question.

synapsesocial.com/papers/68e58475b6db6435875214fahttps://doi.org/10.1186/s40246-024-00657-x
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