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A quantitative model to predict pathogenicity of missense variants in the TP53 gene.
Fortuno, Cristina; Cipponi, Arcadi; Ballinger, Mandy L; Tavtigian, Sean V; Olivier, Magali; Ruparel, Vatsal; Haupt, Ygal; Haupt, Sue; Study, International Sarcoma Kindred; Tucker, Kathy; Spurdle, Amanda B; Thomas, David M; James, Paul A.
Afiliación
  • Fortuno C; Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Cipponi A; Cancer Division, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Ballinger ML; Cancer Division, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Tavtigian SV; Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah.
  • Olivier M; Molecular Mechanisms and Biomarkers Group, International Agency for Research on Cancer, Lyon, France.
  • Ruparel V; Research Division, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
  • Haupt Y; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.
  • Haupt S; Research Division, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
  • Study ISK; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.
  • Tucker K; Research Division, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
  • Spurdle AB; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.
  • Thomas DM; Research Division, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
  • James PA; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.
Hum Mutat ; 40(6): 788-800, 2019 06.
Article en En | MEDLINE | ID: mdl-30840781
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteína p53 Supresora de Tumor / Síndrome de Li-Fraumeni / Biología Computacional / Mutación Missense Tipo de estudio: Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteína p53 Supresora de Tumor / Síndrome de Li-Fraumeni / Biología Computacional / Mutación Missense Tipo de estudio: Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Australia