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A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome.
Bains, Sahej; Dotzler, Steven M; Krijger, Christian; Giudicessi, John R; Ye, Dan; Bikker, Hennie; Rohatgi, Ram K; Tester, David J; Bos, J Martijn; Wilde, Arthur A M; Ackerman, Michael J.
Afiliação
  • Bains S; Medical Scientist Training Program, Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Dotzler SM; Medical Scientist Training Program, Mayo Clinic, Rochester, Minnesota; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Krijger C; Department of Experimental Cardiology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Giudicessi JR; Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, Minnesota.
  • Ye D; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Bikker H; Department of Human Genetics, University of Amsterdam, Amsterdam University Medical Center, Amsterdam, The Netherlands.
  • Rohatgi RK; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, Minnesota.
  • Tester DJ; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochest
  • Bos JM; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochest
  • Wilde AAM; Department of Experimental Cardiology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Cardiology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Ackerman MJ; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota; Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochest
Heart Rhythm ; 19(3): 435-442, 2022 03.
Article em En | MEDLINE | ID: mdl-34798354
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome do QT Longo / Canal de Potássio KCNQ1 Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / 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 / Canal de Potássio KCNQ1 Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article