Cardiology

A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

  • Authors: Connie Jiang; Ebony Richardson; Jessica Farr; Adam P Hill; Rizwan Ullah; Brett M Kroncke; Steven M. Harrison; Kate L Thomson; Jodie Ingles; Jamie I Vandenberg; Chai-Ann Ng
  • Collaborators: Istituto Romagnolo per lo Studio dei Tumori (IRST); Oxford Medical Genetics Laboratories; UNSW Sydney; Vanderbilt University
  • Journal: American Journal of Human Genetics
  • Date: 2022 - Jul

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