A calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome
Connie Jiang, Ebony Richardson, Jessica Farr, Adam Parker Hill, Rizwan Ullah, Brett M. Kroncke, Steven M. Harrison, Kate L. Thomson, Jodie Ingles, Jamie I. Vandenberg, Chai‐Ann Ng
This study uses a high-throughput patch-clamp assay to reclassify KCNH2 variants of uncertain significance, providing evidence for clinical interpretation.
The American Journal of Human Genetics · Jun 9, 2022Peer-reviewedGenetics