Article

The yield on re-interpretation of genetic variants in pediatric cardiomyopathy

2024-12-26

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Variant interpretation can change over time as new knowledge emerges. Our aim was to determine the frequency and causes of variant reinterpretation on systematic re-evaluation in pediatric patients with cardiomyopathy. <h4>Methods</h4> Overall, 227 unrelated pediatric patients with cardiomyopathy enrolled in the Heart Centre Biobank harbored a pathogenic/likely pathogenic (P/L...

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Literature Corpus work: 5fa0f180-66eb-525c-b118-6c892fce3c9e
DOI: 10.1101/2024.12.20.24319248

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