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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
Rausell, Antonio; Luo, Yufei; Lopez, Marie; Seeleuthner, Yoann; Rapaport, Franck; Favier, Antoine; Stenson, Peter D; Cooper, David N; Patin, Etienne; Casanova, Jean-Laurent; Quintana-Murci, Lluis; Abel, Laurent.
Afiliación
  • Rausell A; Clinical Bioinformatics Laboratory, INSERM UMR1163, Necker Hospital for Sick Children, 75015 Paris, France; antonio.rausell@inserm.fr casanova@mail.rockefeller.edu laurent.abel@inserm.fr.
  • Luo Y; University of Paris, Imagine Institute, 75015 Paris, France.
  • Lopez M; Clinical Bioinformatics Laboratory, INSERM UMR1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Seeleuthner Y; University of Paris, Imagine Institute, 75015 Paris, France.
  • Rapaport F; Human Evolutionary Genetics Unit, Institut Pasteur, UMR2000, CNRS, Paris 75015, France.
  • Favier A; University of Paris, Imagine Institute, 75015 Paris, France.
  • Stenson PD; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Cooper DN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065.
  • Patin E; Clinical Bioinformatics Laboratory, INSERM UMR1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Casanova JL; University of Paris, Imagine Institute, 75015 Paris, France.
  • Quintana-Murci L; Institute of Medical Genetics, School of Medicine, Cardiff University, CF14 4XN Cardiff, United Kingdom.
  • Abel L; Institute of Medical Genetics, School of Medicine, Cardiff University, CF14 4XN Cardiff, United Kingdom.
Proc Natl Acad Sci U S A ; 117(24): 13626-13636, 2020 06 16.
Article en En | MEDLINE | ID: mdl-32487729
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación con Pérdida de Función / Genética Humana Tipo de estudio: Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2020 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación con Pérdida de Función / Genética Humana Tipo de estudio: Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2020 Tipo del documento: Article