Clinical impact of rare variants associated with inherited channelopathies: a 5-year update

A proper interpretation of the pathogenicity of rare variants is crucial before clinical translation. Ongoing addition of new data may modify previous variant classifications; however, how often a reanalysis is necessary remains undefined. We aimed to extensively reanalyze rare variants associated w...

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Detalles Bibliográficos
Autores principales: Sarquella-Brugada, Georgia, Fernandez-Falgueras, Anna, Cesar, Sergi, Arbelo, Elena, Coll, Mónica, Perez-Serra, Alexandra, Puigmulé, Marta, Iglesias, Anna, Alcalde, Mireia, Vallverdú-Prats, Marta, Fiol, Victoria, Ferrer-Costa, Carles, del Olmo, Bernat, Picó, Ferran, Lopez, Laura, García-Alvarez, Ana, Jordà, Paloma, Tiron de Llano, Coloma, Toro, Rocío, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9522753/
https://www.ncbi.nlm.nih.gov/pubmed/34546463
http://dx.doi.org/10.1007/s00439-021-02370-4

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