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Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve <i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk Stratification.

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作者单位: Vanderbilt University School of Medicine, Medical Scientist Training Program, Nashville, TN, USA.;These authors contributed equally. [1] Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.;School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.;These authors contributed equally. [2] Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine Kyoto, Japan. [3] IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy. [4] Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, USA. [5] Department of Physiology, University of Auckland, Auckland, New Zealand. [6] Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. [7] Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia. [8] IRCCS, Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.;Department of Medicine and Surgery, University Milano Bicocca, Milan, Italy. [9] Vanderbilt University School of Medicine, Medical Scientist Training Program, Nashville, TN, USA. [10] Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. [11] Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. [12] Department of Cardiovascular Medicine, Hôpital Bichat, APHP, Université de Paris Cité, Paris, France. [13] Department of Medicine, University of Auckland, Auckland, New Zealand. [14] Department of Cardiology, Waikato Hospital, Hamilton, New Zealand. [15] Department of Chemistry, Mississippi State University, Starkville, MS 39759, USA. [16] Department of Cardiovascular Medicine, Shiga University of Medical Science, Shiga, Japan. [17] Sydney Children's Hospital Network, University of Sydney, Sydney, Australia. [18] Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan. [19] Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.;School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia. [20]
DOI 10.1101/2024.02.01.24301443
PMID 38370760
发布时间 2024-12-02
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