Reclassification of genetic variants in children with long QT syndrome

BACKGROUND: 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 to evaluate the rate of c...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Westphal, Dominik S., Burkard, Tobias, Moscu‐Gregor, Alexander, Gebauer, Roman, Hessling, Gabriele, Wolf, Cordula M.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7506994/
https://ncbi.nlm.nih.gov/pubmed/32383558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1300
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