Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes

Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes

Summary: Genetic analysis identified the cause of the disease in inherited arrhythmogenic syndromes. A clinically actionable genetic diagnosis requires an accurate interpretation following the current guidelines. Practically half of the genetic diagnoses remain inconclusive due to the identification...

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Main Authors: Estefanía Martínez-Barrios, Andrea Greco, Sergi Cesar, Carles Díez-López, José Cruzalegui, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Irene Zschaeck, Simone Grassi, Antonio Oliva, Norma Balderrábano, Rocío Toro, Georgia Sarquella-Brugada, Oscar Campuzano
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:iScience
Subjects:
Cardiovascular medicine
Human genetics
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004225005619
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http://www.sciencedirect.com/science/article/pii/S2589004225005619

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