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Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance.
Giudicessi, John R; Lieve, Krystien V V; Rohatgi, Ram K; Koca, Faruk; Tester, David J; van der Werf, Christian; Martijn Bos, J; Wilde, Arthur A M; Ackerman, Michael J.
Afiliación
  • Giudicessi JR; Department of Cardiovascular Medicine (Clinician-Investigator Training Program) (J.R.G.).
  • Lieve KVV; Amsterdam UMC, University of Amsterdam, Heart Center and Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.V.L., F.K., C.v.d.W., A.A.M.W.).
  • Rohatgi RK; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology) (R.K.R.).
  • Koca F; Amsterdam UMC, University of Amsterdam, Heart Center and Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.V.L., F.K., C.v.d.W., A.A.M.W.).
  • Tester DJ; Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (D.J.T., J.M.B., M.J.A.).
  • van der Werf C; Amsterdam UMC, University of Amsterdam, Heart Center and Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.V.L., F.K., C.v.d.W., A.A.M.W.).
  • Martijn Bos J; Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (D.J.T., J.M.B., M.J.A.).
  • Wilde AAM; Amsterdam UMC, University of Amsterdam, Heart Center and Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.V.L., F.K., C.v.d.W., A.A.M.W.).
  • Ackerman MJ; Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (D.J.T., J.M.B., M.J.A.).
Circ Genom Precis Med ; 12(5): e002510, 2019 05.
Article en En | MEDLINE | ID: mdl-31112425
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Taquicardia Ventricular / Canal Liberador de Calcio Receptor de Rianodina / Mutación Missense Tipo de estudio: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Circ Genom Precis Med Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Taquicardia Ventricular / Canal Liberador de Calcio Receptor de Rianodina / Mutación Missense Tipo de estudio: Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Circ Genom Precis Med Año: 2019 Tipo del documento: Article