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Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
Grant, Andrew R; Cushman, Brandon J; Cavé, Hélène; Dillon, Mitchell W; Gelb, Bruce D; Gripp, Karen W; Lee, Jennifer A; Mason-Suares, Heather; Rauen, Katherine A; Tartaglia, Marco; Vincent, Lisa M; Zenker, Martin.
Afiliación
  • Grant AR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Cushman BJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Cavé H; Département de Génétique, Hôpital Robert Debré and Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, France.
  • Dillon MW; Molecular Genetic Testing Laboratory, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Gelb BD; Departments of Pediatrics and Genetic and Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York City, New York.
  • Gripp KW; Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
  • Lee JA; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.
  • Mason-Suares H; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
  • Rauen KA; Department of Pediatrics, UC Davis Children's Hospital, Sacramento, California.
  • Tartaglia M; Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Vincent LM; GeneDx, Gaithersburg, Maryland.
  • Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Hum Mutat ; 39(11): 1485-1493, 2018 11.
Article en En | MEDLINE | ID: mdl-30311384
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas ras Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas ras Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article