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Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis is necessary remains undefined. Five years ago, 39 rare ACM-related variants...

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Detalles Bibliográficos
Autores principales: Vallverdú-Prats, Marta, Alcalde, Mireia, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, Fernandez-Falgueras, Anna, Coll, Mónica, Pérez-Serra, Alexandra, Puigmulé, Marta, Iglesias, Anna, Fiol, Victoria, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, Lopez, Laura, Jordà, Paloma, García-Álvarez, Ana, Tirón de Llano, Coloma, Toro, Rocío, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996798/
https://www.ncbi.nlm.nih.gov/pubmed/33652588
http://dx.doi.org/10.3390/jpm11030162