A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome
Connie Jiang, Ebony Richardson, Jessica Farr, Adam P. Hill, Rizwan Ullah, Brett M. Kroncke, Steven M. Harrison, Kate Thomson, Jodie Ingles, Jamie I. Vandenberg, Chai‐Ann Ng
Topics & Concepts
Missense mutationBiologyClinical significanceGeneGeneticsComputational biologyPhenotypeBioinformaticsMedicineInternal medicineCardiac electrophysiology and arrhythmiasGenomics and Rare DiseasesIon channel regulation and function