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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards, Sue; Aziz, Nazneen; Bale, Sherri; Bick, David; Das, Soma; Gastier-Foster, Julie; Grody, Wayne W; Hegde, Madhuri; Lyon, Elaine; Spector, Elaine; Voelkerding, Karl; Rehm, Heidi L.
Afiliación
  • Richards S; Department of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon, USA.
  • Aziz N; 1] College of American Pathologists, Chicago, Illinois, USA [2] Current affiliation: Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Bale S; GeneDx, Gaithersburg, Maryland, USA.
  • Bick D; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Das S; Department of Human Genetics, Clinical Molecular Genetics Laboratory, The University of Chicago, Chicago, Illinois, USA.
  • Gastier-Foster J; 1] Cytogenetics/Molecular Genetics Laboratory, Nationwide Children's Hospital, Columbus, Ohio, USA [2] Department of Pathology, Ohio State University College of Medicine, Columbus, Ohio, USA [3] Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USA.
  • Grody WW; 1] Department of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, Los Angeles, California, USA [2] Department of Pediatrics, University of California Los Angeles School of Medicine, Los Angeles, California, USA [3] Department of Human Genetics, University o
  • Hegde M; Department of Human Genetics, Emory Genetics Laboratory, Emory University, Atlanta, Georgia, USA.
  • Lyon E; Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Spector E; Department of Pediatrics, Molecular Genetics Laboratory, Children's Hospital Colorado, University of Colorado Anschutz Medical School, Denver, Colorado, USA.
  • Voelkerding K; Department of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Rehm HL; Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Genet Med ; 17(5): 405-24, 2015 May.
Article en En | MEDLINE | ID: mdl-25741868
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Pruebas Genéticas / Análisis de Secuencia de ADN Tipo de estudio: Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Pruebas Genéticas / Análisis de Secuencia de ADN Tipo de estudio: Etiology_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos