Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes there is insufficient evidence to make a definitive genetic diagnosis. We have established a robust functional patch clamp...

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Main Authors: Kate Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal, Tobias Burkard, Cordula M. Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai‐Ann Ng
Format: Artigo
Language:English
Published: 2024
Online Access:https://doi.org/10.1016/j.xhgg.2024.100270
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https://doi.org/10.1016/j.xhgg.2024.100270

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