Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Background: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K(+) current (I(Kr)), are causal to long QT syndrome type 2 (LQTS2). We identified eight index patients with a new variant of unknown significan...

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Detalles Bibliográficos
Autores principales: Copier, Jaël S, Bootsma, Marianne, Ng, Chai A, Wilde, Arthur A M, Bertels, Robin A, Bikker, Hennie, Christiaans, Imke, van der Crabben, Saskia N, Hol, Janna A, Koopmann, Tamara T, Knijnenburg, Jeroen, Lommerse, Aafke A J, van der Smagt, Jasper J, Bezzina, Connie R, Vandenberg, Jamie I, Verkerk, Arie O, Barge-Schaapveld, Daniela Q C M, Lodder, Elisabeth M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10026256/
https://www.ncbi.nlm.nih.gov/pubmed/36269083
http://dx.doi.org/10.1093/hmg/ddac261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10026256/
https://www.ncbi.nlm.nih.gov/pubmed/36269083
http://dx.doi.org/10.1093/hmg/ddac261

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