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

  • Authors: Kate L 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
  • Collaborators: Invitae Corporation; Murdoch Childrens Research Institute; Oxford Medical Genetics Laboratories; Technical University of Munich; University of Amsterdam; UNSW Sydney; Vanderbilt University
  • Journal: Human Genetics and Genomics Advances
  • Date: 2024 - Jan

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