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Article

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3

1 Oct 2019

Abstract excerpt

The underlying genetic mechanisms and early pathological events of children with primary cardiomyopathy (CMP) are insufficiently characterized. In this study, we aimed to characterize the mutational spectrum of primary CMP in a large cohort of patients ≤18 years referred to a tertiary center. Eighty unrelated index patients with pediatric primary CMP underwent genetic testing with a panel-based next-generation...

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PMID: 31568572
DOI: 10.1111/cge.13645

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