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Somatic genetic rescue of a germline ribosome assembly defect.

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Title: Somatic genetic rescue of a germline ribosome assembly defect.
Authors: Tan S; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK., Kermasson L; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France., Hilcenko C; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK., Kargas V; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK., Traynor D; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK., Boukerrou AZ; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK., Escudero-Urquijo N; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK., Faille A; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK., Bertrand A; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France., Rossmann M; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK., Goyenechea B; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; PolyProx Therapeutics, Babraham Research Campus, Cambridge, UK., Jin L; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge, UK., Moreil J; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France., Alibeu O; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Beaupain B; French Neutropenia Registry, Assistance Publique-Hôpitaux de Paris, Trousseau Hospital, Paris, France., Bôle-Feysot C; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Fumagalli S; Institut Necker Enfants Malades, Paris, France.; INSERM, U1151, Université Paris Descartes Sorbonne Cité, Paris, France., Kaltenbach S; Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité, Paris, France.; Service de cytogénétique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France., Martignoles JA; Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique, Paris, France., Masson C; INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Nitschké P; INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Parisot M; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Pouliet A; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Radford-Weiss I; Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité, Paris, France.; Service de cytogénétique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France., Tores F; INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., de Villartay JP; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France., Zarhrate M; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France., Koh AL; Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Phua KB; Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Reversade B; Genome Institute of Singapore, A*STAR, Biopolis, Singapore, Singapore., Bond PJ; Bioinformatics Institute (A*STAR), Singapore, Singapore.; Department of Biological Sciences, National University of Singapore, Singapore, Singapore., Bellanné-Chantelot C; Department of Genetics, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Callebaut I; Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris, France., Delhommeau F; Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique, Paris, France., Donadieu J; Service d'Hémato-Oncologie Pédiatrique, Assistance Publique-Hôpitaux de Paris Hôpital Trousseau, Registre des neutropénies-Centre de référence des neutropénies chroniques, Paris, France., Warren AJ; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom. ajw1000@cam.ac.uk.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK. ajw1000@cam.ac.uk.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK. ajw1000@cam.ac.uk., Revy P; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France. patrick.revy@inserm.fr.
Source: Nature communications [Nat Commun] 2021 Aug 19; Vol. 12 (1), pp. 5044. Date of Electronic Publication: 2021 Aug 19.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Somatic genetic rescue of a germline ribosome assembly defect.
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  Data: <searchLink fieldCode="AU" term="%22Tan+S%22">Tan S</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Kermasson+L%22">Kermasson L</searchLink>; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hilcenko+C%22">Hilcenko C</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Kargas+V%22">Kargas V</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Traynor+D%22">Traynor D</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Boukerrou+AZ%22">Boukerrou AZ</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Escudero-Urquijo+N%22">Escudero-Urquijo N</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Faille+A%22">Faille A</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Bertrand+A%22">Bertrand A</searchLink>; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rossmann+M%22">Rossmann M</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Goyenechea+B%22">Goyenechea B</searchLink>; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; PolyProx Therapeutics, Babraham Research Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Jin+L%22">Jin L</searchLink>; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK.; MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Moreil+J%22">Moreil J</searchLink>; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Alibeu+O%22">Alibeu O</searchLink>; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Beaupain+B%22">Beaupain B</searchLink>; French Neutropenia Registry, Assistance Publique-Hôpitaux de Paris, Trousseau Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bôle-Feysot+C%22">Bôle-Feysot C</searchLink>; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fumagalli+S%22">Fumagalli S</searchLink>; Institut Necker Enfants Malades, Paris, France.; INSERM, U1151, Université Paris Descartes Sorbonne Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Kaltenbach+S%22">Kaltenbach S</searchLink>; Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité, Paris, France.; Service de cytogénétique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Martignoles+JA%22">Martignoles JA</searchLink>; Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique, Paris, France.<br /><searchLink fieldCode="AU" term="%22Masson+C%22">Masson C</searchLink>; INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nitschké+P%22">Nitschké P</searchLink>; INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Parisot+M%22">Parisot M</searchLink>; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pouliet+A%22">Pouliet A</searchLink>; INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Radford-Weiss+I%22">Radford-Weiss I</searchLink>; Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité, Paris, France.; Service de cytogénétique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Tores+F%22">Tores F</searchLink>; INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22de+Villartay+JP%22">de Villartay JP</searchLink>; 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Bioinformatics Institute (A*STAR), Singapore, Singapore.; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Bellanné-Chantelot+C%22">Bellanné-Chantelot C</searchLink>; Department of Genetics, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Callebaut+I%22">Callebaut I</searchLink>; Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris, France.<br /><searchLink fieldCode="AU" term="%22Delhommeau+F%22">Delhommeau F</searchLink>; Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique, Paris, France.<br /><searchLink fieldCode="AU" term="%22Donadieu+J%22">Donadieu J</searchLink>; Service d'Hémato-Oncologie Pédiatrique, Assistance Publique-Hôpitaux de Paris Hôpital Trousseau, Registre des neutropénies-Centre de référence des neutropénies chroniques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Warren+AJ%22">Warren AJ</searchLink>; Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom. ajw1000@cam.ac.uk.; Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK. ajw1000@cam.ac.uk.; Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK. ajw1000@cam.ac.uk.<br /><searchLink fieldCode="AU" term="%22Revy+P%22">Revy P</searchLink>; Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France. patrick.revy@inserm.fr.
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          Name:
            NameFull: Donadieu J
      – PersonEntity:
          Name:
            NameFull: Warren AJ
      – PersonEntity:
          Name:
            NameFull: Revy P
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 19
              M: 08
              Text: 2021 Aug 19
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 12
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1