Article
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
PloS one - 1 Jan 2024
Fernandez-Falgueras Anna, Coll Monica, Iglesias Anna, Tiron Coloma, Campuzano Oscar, Brugada Ramon
Abstract excerpt
Inherited cardiovascular diseases are rare diseases that are difficult to diagnose by non-expert professionals. Genetic analyses play a key role in the diagnosis of these diseases, in which the identification of a pathogenic genetic variant is often a diagnostic criterion. Therefore, genetic variant classification and routine reinterpretation as data become available represent one of the main challenges...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
