Article
Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.
International journal of molecular sciences - 20 Oct 2022
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
Abstract excerpt
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 a lack of experimental studies. Genetic variants affecting potential splice site variants are among the most...
Topics
- Humans
- Introns
- RNA Splicing
- Exons
- Mutation
- Death, Sudden, Cardiac
- Protein Isoforms
- RNA Splice Sites