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Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.
Chisholm, Caitlin; Daoud, Hussein; Ghani, Mahdi; Mettler, Gabrielle; McGowan-Jordan, Jean; Sinclair-Bourque, Liz; Smith, Amanda; Jarinova, Olga.
Afiliación
  • Chisholm C; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Daoud H; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Ghani M; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Mettler G; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • McGowan-Jordan J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Sinclair-Bourque L; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada.
  • Smith A; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Jarinova O; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Genet Med ; 20(3): 365-368, 2018 Mar.
Article en En | MEDLINE | ID: mdl-29240080
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Anotación de Secuencia Molecular Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Anotación de Secuencia Molecular Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Canadá