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Document type:
Journal Article 
Author(s):
Westphal, Dominik S; Burkard, Tobias; Moscu-Gregor, Alexander; Gebauer, Roman; Hessling, Gabriele; Wolf, Cordula M 
Title:
Reclassification of genetic variants in children with long QT syndrome. 
Abstract:
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 change in variant classification based on current interpretation standards and dependent on clinical findings. METHODS: Medical charts of children with a molecular genetic diagnosis of LQTS presenting...    »
 
Journal title abbreviation:
Mol Genet Genomic Med 
Year:
2020 
Journal volume:
Journal issue:
Fulltext / DOI:
TUM Institution:
Institut für Humangenetik; Klinik für Herz- und Kreislauferkrankungen im Erwachsenenalter (Prof. Schunkert)