Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

• Magdaléna Neřoldová,

  Roles Investigation, Validation, Visualization, Writing – original draft

  Affiliations Institute for Clinical and Experimental Medicine, Prague, Czech Republic, Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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• Elżbieta Ciara,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland

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• Janka Slatinská,

  Roles Resources

  Affiliation Institute for Clinical and Experimental Medicine, Prague, Czech Republic

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• Soňa Fraňková,

  Roles Resources

  Affiliation Institute for Clinical and Experimental Medicine, Prague, Czech Republic

  https://orcid.org/0000-0002-1462-5920

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• Petra Lišková,

  Roles Investigation, Visualization, Writing – review & editing

  Affiliations Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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• Radana Kotalová,

  Roles Resources

  Affiliation Department of Pediatrics, Second Faculty of Medicine, Charles University and Faculty Hospital Motol, Prague, Czech Republic

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• Janka Globinovská,

  Roles Resources

  Affiliation Department of Pediatrics, Hospital Poprad, Poprad, Slovak Republic

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• Markéta Šafaříková,

  Roles Data curation, Investigation

  Affiliation Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

  https://orcid.org/0000-0003-2896-2108

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• Lucie Pfeiferová,

  Roles Formal analysis

  Affiliations Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic, Department of Informatics and Chemistry, University of Chemistry and Technology in Prague, Prague, Czech Republic

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• Hana Zůnová,

  Roles Data curation, Formal analysis, Investigation

  Affiliation Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic

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• Lenka Mrázová,

  Roles Data curation, Formal analysis, Investigation

  Affiliation Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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• Viktor Stránecký,

  Roles Formal analysis

  Affiliation Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

  https://orcid.org/0000-0002-2599-6479

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• Alena Vrbacká,

  Roles Data curation, Investigation

  Affiliation Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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• Ondřej Fabián,

  Roles Investigation

  Affiliations Institute for Clinical and Experimental Medicine, Prague, Czech Republic, Department of Pathology and Molecular Medicine, 3rd Faculty of Medicine, Charles University and Thomayer Hospital, Prague, Czech Republic

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• Eva Sticová,

  Roles Investigation

  Affiliation Institute for Clinical and Experimental Medicine, Prague, Czech Republic

  https://orcid.org/0000-0003-2486-6266

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• Daniela Skanderová,

  Roles Resources

  Affiliation Department of Pathology, Faculty of Medicine and Dentistry, Palacky University Olomouc and Faculty Hospital, Olomouc, Czech Republic

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• Jan Šperl,

  Roles Resources

  Affiliation Institute for Clinical and Experimental Medicine, Prague, Czech Republic

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• Marta Kalousová,

  Roles Supervision, Writing – review & editing

  Affiliation Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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• Tomáš Zima,

  Roles Funding acquisition, Supervision

  Affiliation Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

  https://orcid.org/0000-0001-8518-6972

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• Milan Macek,

  Roles Funding acquisition, Supervision

  Affiliation Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic

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• Joanna Pawlowska,

  Roles Resources

  Affiliation Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children’s Memorial Health Institute, Warsaw, Poland

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• A. S. Knisely,

  Roles Investigation, Writing – review & editing

  Affiliation Diagnostik- und Forschungsinstitut für Pathologie, Medizinische Universität Graz, Graz, Austria

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• Stanislav Kmoch,

  Roles Funding acquisition, Supervision, Writing – review & editing

  Affiliation Department of Pediatrics and Inherited Metabolic Diseases, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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•  [ ... ],
• Milan Jirsa

  Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – review & editing

  * E-mail: milan.jirsa@ikem.cz

  Affiliations Institute for Clinical and Experimental Medicine, Prague, Czech Republic, Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

  https://orcid.org/0000-0001-7300-6735

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