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Evaluating drug targets through human loss-of-function genetic variation.
Minikel, Eric Vallabh; Karczewski, Konrad J; Martin, Hilary C; Cummings, Beryl B; Whiffin, Nicola; Rhodes, Daniel; Alföldi, Jessica; Trembath, Richard C; van Heel, David A; Daly, Mark J; Schreiber, Stuart L; MacArthur, Daniel G.
Afiliação
  • Minikel EV; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. eminikel@broadinstitute.org.
  • Karczewski KJ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. eminikel@broadinstitute.org.
  • Martin HC; Chemical Biology and Therapeutics Science Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA. eminikel@broadinstitute.org.
  • Cummings BB; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. eminikel@broadinstitute.org.
  • Whiffin N; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA. eminikel@broadinstitute.org.
  • Rhodes D; Henry and Allison McCance Center for Brain Health, Massachusetts General Hospital, Boston, MA, USA. eminikel@broadinstitute.org.
  • Alföldi J; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. eminikel@broadinstitute.org.
  • Trembath RC; Prion Alliance, Cambridge, MA, USA. eminikel@broadinstitute.org.
  • van Heel DA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Daly MJ; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Schreiber SL; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • MacArthur DG; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.
Nature ; 581(7809): 459-464, 2020 05.
Article em En | MEDLINE | ID: mdl-32461653
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genes Essenciais / Terapia de Alvo Molecular / Mutação com Perda de Função Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Nature Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genes Essenciais / Terapia de Alvo Molecular / Mutação com Perda de Função Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Nature Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos