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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Detalles Bibliográficos
Autores principales: Westphal, Dominik S., Burkard, Tobias, Moscu‐Gregor, Alexander, Gebauer, Roman, Hessling, Gabriele, Wolf, Cordula M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506994/
https://www.ncbi.nlm.nih.gov/pubmed/32383558
http://dx.doi.org/10.1002/mgg3.1300

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506994/
https://www.ncbi.nlm.nih.gov/pubmed/32383558
http://dx.doi.org/10.1002/mgg3.1300

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