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A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2.
Ng, Chai-Ann; Ullah, Rizwan; Farr, Jessica; Hill, Adam P; Kozek, Krystian A; Vanags, Loren R; Mitchell, Devyn W; Kroncke, Brett M; Vandenberg, Jamie I.
Afiliação
  • Ng CA; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.
  • Ullah R; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Farr J; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia; School of Computer Science and Engineering, UNSW Sydney, Kensington, NSW, Australia.
  • Hill AP; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.
  • Kozek KA; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Vanags LR; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Mitchell DW; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Kroncke BM; Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA. Electronic address: brett.m.kroncke.1@vumc.org.
  • Vandenberg JI; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia. Electronic address: j.vandenberg@victorchang.edu.au.
Am J Hum Genet ; 109(7): 1208-1216, 2022 07 07.
Article em En | MEDLINE | ID: mdl-35688148
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Canais de Potássio Éter-A-Go-Go / Canal de Potássio ERG1 Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Canais de Potássio Éter-A-Go-Go / Canal de Potássio ERG1 Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article