From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation

• Elina Mercier,

  Roles Formal analysis, Investigation, Methodology, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France

  https://orcid.org/0009-0003-8663-2710

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• David-Alexandre Trégouët,

  Roles Formal analysis, Investigation, Methodology, Visualization

  Affiliation Bordeaux Population Health Research Center, UMR 1219, University of Bordeaux, Inserm, Bordeaux, France

  https://orcid.org/0000-0001-9084-7800

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• Sébastien Campagne,

  Roles Methodology, Visualization

  Affiliation CNRS, INSERM, ARNA, UMR 5320, U1212, University of Bordeaux, Bordeaux, France

  https://orcid.org/0000-0002-0094-4760

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• Vincent Michaud,

  Roles Investigation, Resources, Writing – review & editing

  Affiliations Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France, Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, France

  https://orcid.org/0000-0002-5788-392X

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• David J. Green,

  Roles Investigation, Methodology

  Affiliation Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom

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• Shahram Mesdaghi,

  Roles Formal analysis, Investigation, Methodology, Visualization

  Affiliations Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular & Integrative Biology, Liverpool, United Kingdom, Computational Biology Facility, MerseyBio, University of Liverpool, Liverpool, United Kingdom

  https://orcid.org/0009-0009-8328-5972

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• Orane Le Gallais,

  Roles Investigation

  Affiliation Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France

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• Orphée Jouannigot-Castano,

  Roles Investigation

  Affiliation Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France

  https://orcid.org/0009-0003-4016-6312

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• Daniel J. Rigden,

  Roles Formal analysis, Resources

  Affiliation Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular & Integrative Biology, Liverpool, United Kingdom

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• Catherine Estay-Ahumada,

  Roles Methodology

  Affiliation Institute for Cellular and Integrative Neuroscience, CNRS UPR 3212, Strasbourg, France

  https://orcid.org/0000-0003-4123-8915

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• David Hicks,

  Roles Resources

  Affiliation Institute for Cellular and Integrative Neuroscience, CNRS UPR 3212, Strasbourg, France

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• Panagiotis I. Sergouniotis,

  Roles Conceptualization, Resources

  Affiliation Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom

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• Benoit Arveiler,

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

  Affiliations Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France, Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, France

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• Sophie Javerzat

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Project administration, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: sophie.javerzat@u-bordeaux.fr

  Affiliation Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France

  https://orcid.org/0000-0003-3497-0542

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