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Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani, Kaveh; Davies, Brianna; Cheung, Matthew; Comber, Drake; Roberts, Jason D; Tadros, Rafik; Green, Martin S; Healey, Jeffrey S; Simpson, Christopher S; Sanatani, Shubhayan; Steinberg, Christian; MacIntyre, Ciorsti; Angaran, Paul; Duff, Henry; Hamilton, Robert; Arbour, Laura; Leather, Richard; Seifer, Colette; Fournier, Anne; Atallah, Joseph; Kimber, Shane; Makanjee, Bhavanesh; Alqarawi, Wael; Cadrin-Tourigny, Julia; Joza, Jacqueline; Gardner, Martin; Talajic, Mario; Bagnall, Richard D; Krahn, Andrew D; Laksman, Zachary W M.
  • Rayani K; Center for Cardiovascular Innovation, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Davies B; Center for Cardiovascular Innovation, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Cheung M; Center for Cardiovascular Innovation, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Comber D; Center for Cardiovascular Innovation, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Roberts JD; Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada.
  • Tadros R; Cardiovascular Genetics Center, Montreal Heart Institute, Montreal, QC, Canada.
  • Green MS; Department of Medicine, Universite de Montreal, Montreal, QC, Canada.
  • Healey JS; Heart Institute, University of Ottawa, Ottawa, ON, Canada.
  • Simpson CS; Population Health Research Institute, Hamilton, ON, Canada.
  • Sanatani S; Department of Medicine, Queen's University, Kingston, ON, Canada.
  • Steinberg C; Children's Heart Centre, BC Children's Hospital, Vancouver, BC, Canada.
  • MacIntyre C; Institut Universitaire de Cardiologie et Pneumologie de Quebec, Laval University, Quebec City, QC, Canada.
  • Angaran P; Division of Cardiology, QEII Health Sciences Center, Halifax, NS, Canada.
  • Duff H; St Michael's Hospital, University of Toronto, Toronto, ON, Canada.
  • Hamilton R; Libin Cardiovascular Institute, University of Calgary, Calgary, AB, Canada.
  • Arbour L; Division of Cardiology, The Hospital for Sick Children (SickKids), Toronto, ON, Canada.
  • Leather R; Division of Medical Genetics, Island Health, Victoria, BC, Canada.
  • Seifer C; Royal Jubilee Hospital, Victoria, BC, Canada.
  • Fournier A; Section of Cardiology, Department of Internal Medicine, University of Manitoba, Winnipeg, MB, Canada.
  • Atallah J; Division of Pediatric Cardiology, CHU Sainte-Justine, Universite de Montreal, Montreal, QC, Canada.
  • Kimber S; Division of Pediatric Cardiology, University of Alberta Stollery Children's Hospital, Edmonton, AB, Canada.
  • Makanjee B; Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, AB, Canada.
  • Alqarawi W; Heart Health Institute, Scarborough Health Network, Scarborough, ON, Canada.
  • Cadrin-Tourigny J; Heart Institute, University of Ottawa, Ottawa, ON, Canada.
  • Joza J; Cardiovascular Genetics Center, Montreal Heart Institute, Montreal, QC, Canada.
  • Gardner M; Department of Medicine, Universite de Montreal, Montreal, QC, Canada.
  • Talajic M; Division of Cardiology, McGill University Health Centre, Montreal, QC, Canada.
  • Bagnall RD; Division of Cardiology, QEII Health Sciences Center, Halifax, NS, Canada.
  • Krahn AD; Cardiovascular Genetics Center, Montreal Heart Institute, Montreal, QC, Canada.
  • Laksman ZWM; Department of Medicine, Universite de Montreal, Montreal, QC, Canada.
Eur J Hum Genet ; 31(5): 512-520, 2023 05.
Article en En | MEDLINE | ID: mdl-36138163
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cardiovasculares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cardiovasculares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Año: 2023 Tipo del documento: Article