https://www.selleckchem.com/products/ptc-028.html
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 arrhythmogenic syndromes, which were classified ten years ago, to determine whether their classification aligns with current standards and research findings. METHODS In 2010, the rare variants identified through genetic analysis were classified follo