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