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

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 inherited arrhyth...

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Detalhes bibliográficos
Publicado no:EBioMedicine
Main Authors: Campuzano, Oscar, Sarquella-Brugada, Georgia, Fernandez-Falgueras, Anna, Coll, Mónica, Iglesias, Anna, Ferrer-Costa, Carles, Cesar, Sergi, Arbelo, Elena, García-Álvarez, Ana, Jordà, Paloma, Toro, Rocío, Tiron de Llano, Coloma, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Research paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7136601/
https://ncbi.nlm.nih.gov/pubmed/32268277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2020.102732
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