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Deficit of homozygo...
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Oddsson, AsmundurdeCODE genetics/Amgen, Inc., Reykjavik, Iceland
(author)
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
- Article/chapterEnglish2023
Publisher, publication year, extent ...
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Springer Nature,2023
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-211785
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-211785URI
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https://doi.org/10.1038/s41467-023-38951-2DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:153086021URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Correction: Oddsson, A., Sulem, P., Sveinbjornsson, G. et al. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality. Nat Commun 14, 3923 (2023). DOI: 10.1038/s41467-023-39492-4
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Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines and genes orthologous to mouse genes known to affect viability. The function of these genes gives insight into the genetics of intrauterine lethality. We also identified 1077 genes with homozygous predicted loss-of-function genotypes not previously described, bringing the total set of genes completely knocked out in humans to 4785.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Sulem, PatrickdeCODE genetics/Amgen, Inc., Reykjavik, Iceland
(author)
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Sveinbjornsson, GardardeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Arnadottir, Gudny A.deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
(author)
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Steinthorsdottir, ValgerdurdeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Halldorsson, Gisli H.deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Atlason, Bjarni A.deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Oskarsson, Gudjon R.deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Helgason, HannesdeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Nielsen, Henriette SvarreDeptartment of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Denmark; Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark
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Westergaard, DavidDeptartment of Obstetrics and Gynecology, Copenhagen University Hospital, Hvidovre, Denmark; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Methods and Analysis, Statistics Denmark, Copenhagen, Denmark
(author)
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Karjalainen, Juha M.Institute for Molecular Medicine, Finland, University of Helsinki, Helsinki, Finland
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Katrinardottir, HildigunnurdeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Fridriksdottir, RundeCODE genetics/Amgen, Inc., Reykjavik, Iceland
(author)
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Jensson, Brynjar O.deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Tragante, ViniciusdeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Ferkingstad, EgildeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Jonsson, HakondeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Gudjonsson, Sigurjon A.deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Beyter, DorukdeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Moore, Kristjan H. S.deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland
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Thordardottir, Helga B.deCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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Kristmundsdottir, SnaedisdeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Stefansson, Olafur A.deCODE genetics/Amgen, Inc., Reykjavik, Iceland
(author)
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Rantapää-Dahlqvist, SolbrittUmeå universitet,Reumatologi(Swepub:umu)sora0001
(author)
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Sonderby, Ida ElkenDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway; NORMENT Centre, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway
(author)
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Didriksen, MariaDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
(author)
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Stridh, PernillaNeuroimmunology Unit, Department of Clinical Neuroscience, Center of Molecular Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
(author)
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Haavik, JanDepartment of Biomedicine, University of Bergen, Bergen, Norway; Bergen Center of Brain Plasticity, Division of Psychiatry, Haukeland University Hospital, Bergen, Norway
(author)
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Tryggvadottir, LaufeyIcelandic Cancer Registry, Icelandic Cancer Society, Reykjavik, Iceland; Faculty of Medicine, BMC, Laeknagardur, School of Health Sciences, University of Iceland, Reykjavik, Iceland
(author)
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Frei, OleksandrNORMENT Centre, University of Oslo, Oslo, Norway; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway; Centre for Bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway
(author)
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Walters, G. BragideCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Kockum, IngridKarolinska Institutet
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Hjalgrim, HenrikDepartment of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark; Danish Cancer Society Research Center, Copenhagen, Denmark; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
(author)
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Olafsdottir, Thorunn A.deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Selbaek, GeirNorwegian National Centre of Ageing and Health, Vestfold Hospital Trust, Tonsberg, Norway; Department of Geriatric Medicine, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway
(author)
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Nyegaard, MetteDeptartment of Health Science and Technology, Aalborg University, Aalborg, Denmark
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Erikstrup, ChristianDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
(author)
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Brodersen, ThorstenDepartment of Clinical Immunology, Zealand University Hospital, Koge, Denmark
(author)
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Saevarsdottir, SaedisdeCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
(author)
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Olsson, TomasKarolinska Institutet
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Nielsen, Kaspar ReneDepartment of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark
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Haraldsson, AsgeirFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Children’s Hospital Iceland, Landspitali University Hospital, Reykjavik, Iceland
(author)
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Bruun, Mie TopholmDepartment of Clinical Immunology, Odense University Hospital, Odense, Denmark
(author)
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Hansen, Thomas FolkmannNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark
(author)
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Brunak, SørenNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
(author)
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Nielsen, Kasper ReneDepartment of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark
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Brun, Mie TopholmDepartment of Clinical Immunology, Odense University Hospital, Odense, Denmark
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Gudbjartsson, DanieldeCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
(author)
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Stefánsson, HreinndeCODE genetics/Amgen, Inc., Reykjavik, Iceland; deCODE genetics/Amgen, Inc., Reykjavik, Iceland
(author)
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Þorsteinsdóttir, UnnurdeCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
(author)
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Steingrimsdottir, ThoraFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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Jacobsen, Rikke LouiseDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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Lie, Rolv T.Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway; Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway
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Djurovic, SrdjanDepartment of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway; NORMENT Centre, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway
(author)
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Alfredsson, LarsInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
(author)
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Lopez de Lapuente Portilla, AitzkoaHematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden
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Brunak, SorenNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
(author)
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Melsted, PalldeCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland
(author)
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Halldorsson, Bjarni V.deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
(author)
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Saemundsdottir, JonadeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Magnusson, Olafur Th.deCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Padyukov, LeonidDepartment of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden
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Banasik, KarinaNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Rafnar, ThorunndeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Askling, JohanDepartment of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden
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Klareskog, LarsDepartment of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden
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Pedersen, Ole BirgerDepartment of Clinical Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Immunology, Zealand University Hospital, Koge, Denmark
(author)
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Masson, GislideCODE genetics/Amgen, Inc., Reykjavik, Iceland
(author)
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Havdahl, AlexandraDepartment of Mental Disorders, Norwegian Institute of Public Health, Oslo, Norway; Nic Waals Institute, Lovisenberg Diaconal Hospital, Oslo, Norway; PROMENTA Research Center, Department of Psychology, University of Oslo, Oslo, Norway
(author)
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Nilsson, BjornHematology and Transfusion Medicine, Department of Laboratory Medicine, Lund, Sweden
(author)
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Andreassen, Ole A.NORMENT Centre, University of Oslo, Oslo, Norway; KG Jebsen Centre for Neurodevelopmental disorders, University of Oslo, Oslo, Norway; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway
(author)
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Daly, MarkInstitute for Molecular Medicine, Finland, University of Helsinki, Helsinki, Finland; Analytic and Translational Genetics Unit, Massachusetts General Hospital, MA, Boston, United States; Broad Institute of MIT and Harvard, MA, Cambridge, United States
(author)
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Ostrowski, Sisse RyeDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Deptartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
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Jonsdottir, IngileifdeCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
(author)
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Holm, HilmadeCODE genetics/Amgen, Inc., Reykjavik, Iceland
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Helgason, AgnardeCODE genetics/Amgen, Inc., Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland
(author)
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Thorsteinsdottir, UnnurdeCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
(author)
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Stefansson, KarideCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
(author)
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Gudbjartsson, Daniel F.deCODE genetics/Amgen, Inc., Reykjavik, Iceland; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland
(author)
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deCODE genetics/Amgen, Inc., Reykjavik, IcelanddeCODE genetics/Amgen, Inc., Reykjavik, Iceland; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
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In:Nature Communications: Springer Nature14:12041-1723
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Alfredsson, Lars
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Halldorsson, Bja ...
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Saemundsdottir, ...
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Magnusson, Olafu ...
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Padyukov, Leonid
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Banasik, Karina
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Rafnar, Thorunn
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Askling, Johan
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Masson, Gisli
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Nilsson, Bjorn
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