Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

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Title: Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
Authors: van Loggerenberg W; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Sowlati-Hashjin S; Institute of Biomedical Engineering, University of Toronto, ON, Canada.; Institute of Biomaterials and Biomedical Engineering, University of Toronto, ON, Canada., Weile J; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Hamilton R; Advanced Academic Programs, Johns Hopkins University, Washington, DC, USA., Chawla A; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada., Gebbia M; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada., Kishore N; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada., Frésard L; Invitae Corp, San Francisco, CA 94103, USA., Mustajoki S; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki., Pischik E; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki., Di Pierro E; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unit of Medicine and Metabolic Diseases, Milan, Italy., Barbaro M; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Floderus Y; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Schmitt C; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Cité, Paris, France., Gouya L; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Cité, Paris, France., Colavin A; Invitae Corp, San Francisco, CA 94103, USA., Nussbaum R; Invitae Corp, San Francisco, CA 94103, USA., Friesema ECH; Porphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands., Kauppinen R; Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki., To-Figueras J; Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain., Aarsand AK; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway., Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Garton M; Institute of Biomedical Engineering, University of Toronto, ON, Canada.; Institute of Biomaterials and Biomedical Engineering, University of Toronto, ON, Canada., Roth FP; Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.
Source: BioRxiv : the preprint server for biology [bioRxiv] 2023 Feb 06. Date of Electronic Publication: 2023 Feb 06.
Publication Type: Preprint; Journal Article
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2692-8205
DOI:10.1101/2023.02.06.527353