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A protein-truncatin...
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
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- Rivas, Manuel A. (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Graham, Daniel (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
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- Sulem, Patrick (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland
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visa fler...
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- Stevens, Christine (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
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- Desch, A. Nicole (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
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- Goyette, Philippe (författare)
- Research Center, Montreal Heart Institute, Montréal, Québec, Canada
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- Gudbjartsson, Daniel (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland
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- Jonsdottir, Ingileif (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland; Department of Immunology, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland
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- Thorsteinsdottir, Unnur (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland
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- Degenhardt, Frauke (författare)
- Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
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- Mucha, Sören (författare)
- Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
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- Kurki, Mitja I. (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Li, Dalin (författare)
- F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA
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- D'Amato, Mauro (författare)
- Karolinska Institutet
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- Annese, Vito (författare)
- Unit of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital, San Giovanni Rotondo, Italy
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- Vermeire, Severine (författare)
- Department of Clinical and Experimental Medicine, Translational Research in GastroIntestinal Disorders (TARGID), Katholieke Universiteit (KU) Leuven, Leuven, Belgium; Division of Gastroenterology, University Hospital Gasthuisberg, Leuven, Belgium
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- Weersma, Rinse K. (författare)
- Department of Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands; Department of Gastroenterology and Hepatology, University of Groningen, Groningen, The Netherlands
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- Halfvarson, Jonas, 1970- (författare)
- Örebro universitet,Institutionen för medicinska vetenskaper,Department of Gastroenterology, Örebro University Hospital, Örebro, Sweden
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- Paavola-Sakki, Paulina (författare)
- Department of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Clinic of Gastroenterology, Helsinki University Hospital, Helsinki, Finland
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- Lappalainen, Maarit (författare)
- Department of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland; Research Programs Unit, Immunobiology, University of Helsinki, Helsinki, Finland;
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- Lek, Monkol (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Cummings, Beryl (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Tukiainen, Taru (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Haritunians, Talin (författare)
- F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA
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- Halme, Leena (författare)
- Department of Transplantation and Liver Surgery, University of Helsinki, Helsinki, Finland
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- Koskinen, Lotta L. E. (författare)
- Research Programs Unit, Immunobiology, and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland; Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
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- Ananthakrishnan, Ashwin N. (författare)
- Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA; Division of Medical Sciences, Harvard Medical School, Boston, USA
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- Luo, Yang (författare)
- Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Hinxton, UK
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- Heap, Graham A. (författare)
- IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
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- Visschedijk, Marijn C. (författare)
- Department of Gastroenterology and Hepatology, University of Groningen, Groningen, The Netherlands; Department of Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands
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- MacArthur, Daniel G. (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Neale, Benjamin M. (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Ahmad, Tariq (författare)
- Peninsula College of Medicine and Dentistry, Exeter, UK
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- Anderson, Carl A. (författare)
- Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Hinxton, UK
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- Brant, Steven R. (författare)
- Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, USA; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, USA
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- Duerr, Richard H. (författare)
- Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh,USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, USA
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- Silverberg, Mark S. (författare)
- Department of Medicine, Inflammatory Bowel Disease Centre, Mount Sinai Hospital, Toronto, Canada
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- Cho, Judy H. (författare)
- Department of Genetics, Yale School of Medicine, New Haven, USA
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- Palotie, Aarno (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston MA, USA; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Center for Human Genetic Research, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston MA, USA
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- Saavalainen, Päivi (författare)
- Research Programs Unit, Immunobiology, University of Helsinki, Helsinki, Finland
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- Kontula, Kimmo (författare)
- Department of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland
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- Färkkilä, Martti (författare)
- Department of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Clinic of Gastroenterology, Helsinki University Hospital, Helsinki, Finland
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- McGovern, Dermot P. B. (författare)
- F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA
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- Franke, Andre (författare)
- Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
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- Stefansson, Kari (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland
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- Rioux, John D. (författare)
- Research Center, Montreal Heart Institute, Montréal, Canada; Faculté de Médecine, Université de Montréal, Montréal, Canada
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- Xavier, Ramnik J. (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Daly, Mark J. (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA
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- Barrett, J. (författare)
- IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
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- de Lane, K. (författare)
- IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
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- Wang, M. H. (författare)
- Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, USA
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(creator_code:org_t)
- 2016-08-09
- 2016
- Engelska.
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Ingår i: Nature Communications. - London, United Kingdom : Nature Publishing Group. - 2041-1723. ; 7
- Relaterad länk:
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https://doi.org/10.1...
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P=6.89 × 10(-7), odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
Ämnesord
- NATURVETENSKAP -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)
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- Av författaren/redakt...
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Rivas, Manuel A.
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Graham, Daniel
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Sulem, Patrick
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Stevens, Christi ...
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Desch, A. Nicole
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Goyette, Philipp ...
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visa fler...
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Gudbjartsson, Da ...
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Jonsdottir, Ingi ...
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Thorsteinsdottir ...
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Degenhardt, Frau ...
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Mucha, Sören
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Kurki, Mitja I.
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Li, Dalin
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D'Amato, Mauro
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Annese, Vito
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Vermeire, Severi ...
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Weersma, Rinse K ...
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Halfvarson, Jona ...
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Paavola-Sakki, P ...
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Lappalainen, Maa ...
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Lek, Monkol
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Cummings, Beryl
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Tukiainen, Taru
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Haritunians, Tal ...
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Halme, Leena
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Koskinen, Lotta ...
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Ananthakrishnan, ...
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Luo, Yang
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Heap, Graham A.
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Visschedijk, Mar ...
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MacArthur, Danie ...
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Neale, Benjamin ...
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Ahmad, Tariq
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Anderson, Carl A ...
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Brant, Steven R.
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Duerr, Richard H ...
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Silverberg, Mark ...
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Cho, Judy H.
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Palotie, Aarno
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Saavalainen, Päi ...
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Kontula, Kimmo
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Färkkilä, Martti
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McGovern, Dermot ...
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Franke, Andre
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Stefansson, Kari
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Rioux, John D.
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Xavier, Ramnik J ...
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Daly, Mark J.
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Barrett, J.
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de Lane, K.
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Wang, M. H.
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Örebro universitet
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