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Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy

Background Variant interpretation can change over time as new knowledge emerges. Our aim was to determine the frequency and causes of variant reinterpretation on systematic reevaluation in pediatric patients with cardiomyopathy. Methods Overall, 227 unrelated pediatric patients with cardiomyopathy e...

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Principais autores: Takanori Suzuki, Robert Lesurf, Rajadurai Akilen, Xiaoqiao Xu, Eva Maria Batke, Vinay J. Rao, Rebekah Jobling, Laura Zahavich, Natasha Henden, Jodie Ingles, Edgardo Alania Torres, Keiichi Hirono, Nathalie Roux‐buisson, Perundurai S. Dhandapany, Christoph Sandmann, Seema Mital
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2025-09-01
coleção:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Assuntos:
variants of uncertain significance
cardiomyopathy
genetic testing
pathogenic variants
variant reinterpretation
Acesso em linha:https://www.ahajournals.org/doi/10.1161/JAHA.125.041298
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