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Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Sevim Bayrak, Cigdem; Stein, David; Jain, Aayushee; Chaudhary, Kumardeep; Nadkarni, Girish N; Van Vleck, Tielman T; Puel, Anne; Boisson-Dupuis, Stephanie; Okada, Satoshi; Stenson, Peter D; Cooper, David N; Schlessinger, Avner; Itan, Yuval.
Afiliação
  • Sevim Bayrak C; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Stein D; The Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Jain A; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Chaudhary K; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Nadkarni GN; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Division of Nephrology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sina
  • Van Vleck TT; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM 1163, Paris, France; University of Paris, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
  • Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM 1163, Paris, France; University of Paris, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
  • Okada S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima 734-8551, Japan.
  • Stenson PD; Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK.
  • Cooper DN; Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK.
  • Schlessinger A; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: avner.schlessinger@mssm.edu.
  • Itan Y; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: yuval.itan@mssm.edu.
Am J Hum Genet ; 108(12): 2301-2318, 2021 12 02.
Article em En | MEDLINE | ID: mdl-34762822
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Bases de Dados Genéticas / Mutação com Ganho de Função / Mutação com Perda de Função Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Bases de Dados Genéticas / Mutação com Ganho de Função / Mutação com Perda de Função Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos