Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

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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Bibliographic Details
Main Authors: Monica Coll, Anna Fernandez-Falgueras, Anna Iglesias, Bernat del Olmo, Laia Nogue-Navarro, Adria Simon, Alexandra Perez Serra, Marta Puigmule, Laura Lopez, Ferran Pico, Monica Corona, Marta Vallverdu-Prats, Coloma Tiron, Oscar Campuzano, Josep Castella, Ramon Brugada, Mireia Alcalde
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:International Journal of Molecular Sciences
Subjects:
sudden death
intronic variants
splicing
genetics
Online Access:https://www.mdpi.com/1422-0067/23/20/12640

Internet

https://www.mdpi.com/1422-0067/23/20/12640

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