Articles with "reclassification genetic" as a keyword



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Reclassification of genetic variants in children with long QT syndrome

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Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1300

Abstract: Genes encoding cardiac ion channels or regulating proteins have been associated with the inherited form of long QT syndrome (LQTS). Complex pathophysiology and missing functional studies, however, often bedevil variant interpretation and classification. We aimed… read more here.

Keywords: reclassification genetic; long syndrome; genetic variants; children long ... See more keywords