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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Gebbia, Marinella; Kishore, Nishka; Frésard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C H; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K; Desnick, Robert J; Garton, Michael; Roth, Frederick P.
Afiliação
  • van Loggerenberg W; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.
  • Sowlati-Hashjin S; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Weile J; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
  • Hamilton R; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.
  • Chawla A; Institute of Biomedical Engineering, University of Toronto, ON, Canada.
  • Gebbia M; Institute of Biomaterials and Biomedical Engineering, University of Toronto, ON, Canada.
  • Kishore N; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.
  • Frésard L; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Mustajoki S; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
  • Pischik E; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.
  • Di Pierro E; Advanced Academic Programs, Johns Hopkins University, Washington, DC, USA.
  • Barbaro M; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.
  • Floderus Y; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Schmitt C; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
  • Gouya L; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.
  • Colavin A; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Nussbaum R; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
  • Friesema ECH; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.
  • Kauppinen R; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • To-Figueras J; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
  • Aarsand AK; Invitae Corp, San Francisco, CA 94103, USA.
  • Desnick RJ; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki.
  • Garton M; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki.
  • Roth FP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unit of Medicine and Metabolic Diseases, Milan, Italy.
bioRxiv ; 2023 Feb 06.
Article em En | MEDLINE | ID: mdl-36798224
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá