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Using ClinVar as a Resource to Support Variant Interpretation.
Harrison, Steven M; Riggs, Erin R; Maglott, Donna R; Lee, Jennifer M; Azzariti, Danielle R; Niehaus, Annie; Ramos, Erin M; Martin, Christa L; Landrum, Melissa J; Rehm, Heidi L.
Afiliación
  • Harrison SM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
  • Riggs ER; Harvard Medical School, Boston, Massachusetts.
  • Maglott DR; Geisinger Health System, Danville, Pennsylvania.
  • Lee JM; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Rockville, Maryland.
  • Azzariti DR; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Rockville, Maryland.
  • Niehaus A; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
  • Ramos EM; National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland.
  • Martin CL; National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland.
  • Landrum MJ; Geisinger Health System, Danville, Pennsylvania.
  • Rehm HL; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Rockville, Maryland.
Curr Protoc Hum Genet ; 89: 8.16.1-8.16.23, 2016 Apr 01.
Article en En | MEDLINE | ID: mdl-27037489
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Genoma Humano / Bases de Datos Genéticas Tipo de estudio: Guideline Límite: Humans Idioma: En Revista: Curr Protoc Hum Genet Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Genoma Humano / Bases de Datos Genéticas Tipo de estudio: Guideline Límite: Humans Idioma: En Revista: Curr Protoc Hum Genet Año: 2016 Tipo del documento: Article