Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

Molecular screening for pathogenic mutations in sudden cardiac death (SCD)-related genes is common practice for SCD cases. However, test results may lead to uncertainty because of the identification of variants of unknown significance (VUS) occurring in up to 70% of total identified variants due to...

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Detalles Bibliográficos
Autores principales: Coll, Monica, Fernandez-Falgueras, Anna, Iglesias, Anna, del Olmo, Bernat, Nogue-Navarro, Laia, Simon, Adria, Perez Serra, Alexandra, Puigmule, Marta, Lopez, Laura, Pico, Ferran, Corona, Monica, Vallverdu-Prats, Marta, Tiron, Coloma, Campuzano, Oscar, Castella, Josep, Brugada, Ramon, Alcalde, Mireia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604081/
https://www.ncbi.nlm.nih.gov/pubmed/36293497
http://dx.doi.org/10.3390/ijms232012640

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