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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

ABSTRACT: Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re-analysis of rare variants associated with inheri...

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Principais autores: Oscar Campuzano, Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Mónica Coll, Anna Iglesias, Carles Ferrer-Costa, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Rocío Toro, Coloma Tiron de Llano, Simone Grassi, Antonio Oliva, Josep Brugada, Ramon Brugada
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2020-04-01
Serier:EBioMedicine
Online adgang:http://www.sciencedirect.com/science/article/pii/S2352396420301079
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