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Title:

Reclassification of genetic variants in children with long QT syndrome.

Document type:
Journal Article
Author(s):
Westphal, Dominik S; Burkard, Tobias; Moscu-Gregor, Alexander; Gebauer, Roman; Hessling, Gabriele; Wolf, Cordula M
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:
8
Journal issue:
9
Fulltext / DOI:
doi:10.1002/mgg3.1300
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/32383558
TUM Institution:
Institut für Humangenetik; Klinik für Herz- und Kreislauferkrankungen im Erwachsenenalter (Prof. Schunkert)
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