Article
Determining the pathogenicity of genetic variants associated with cardiac channelopathies.
Scientific reports - 22 Jan 2015
Campuzano Oscar, Allegue Catarina, Fernandez Anna, Iglesias Anna, Brugada Ramon
Abstract excerpt
Advancements in genetic screening have generated massive amounts of data on genetic variation; however, a lack of clear pathogenic stratification has left most variants classified as being of unknown significance. This is a critical limitation for translating genetic data into clinical practice. Genetic screening is currently recommended in the guidelines for diagnosis and treatment of cardiac channelopathies,...
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