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-  2019 

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance

DOI: 10.1007/s12471-019-1250-5

Keywords: Next-generation sequencing, Variants of unknown significance, Cardiogenetic, Gene panel, Detection rate

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Abstract:

Genetic heterogeneity is common in inherited cardiac diseases. Next-generation sequencing gene panels are therefore suitable for genetic diagnosis. We describe the results of implementation of cardiomyopathy and arrhythmia gene panels in clinical care

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