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Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic.
Marcou, Cherisse A; Pitel, Beth; Hagen, Clinton E; Boczek, Nicole J; Rowsey, Ross A; Baughn, Linda B; Hoppman, Nicole L; Thorland, Erik C; Kearney, Hutton M.
Afiliação
  • Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. marcou.cherisse@mayo.edu.
  • Pitel B; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Hagen CE; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
  • Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Rowsey RA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Baughn LB; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Hoppman NL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Thorland EC; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Kearney HM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Genet Med ; 22(12): 2120-2124, 2020 12.
Article em En | MEDLINE | ID: mdl-32820244
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variações do Número de Cópias de DNA / Exoma Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variações do Número de Cópias de DNA / Exoma Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article