Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer

• Marwa Mahdouani,

  Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Validation, Writing – original draft

  Affiliations Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia, Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia

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• Slim Ben Ahmed,

  Roles Investigation

  Affiliations Department of Oncology, Farhat Hached University Hospital, Sousse, Tunisia, Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia

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• Fahmi Hmila,

  Roles Investigation

  Affiliations Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia, Department of General and Digestive Surgery, Farhat Hached University Hospital, Sousse, Tunisia

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• Henda Rais,

  Roles Investigation

  Affiliation Medical Service, Salah Azaiez Institute, Tunis, Tunisia

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• Rihab Ben Sghaier,

  Roles Methodology

  Affiliations Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia, Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia

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• Hanene Saad,

  Roles Methodology

  Affiliations Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia, Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia

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• Mariem Ben Said,

  Roles Methodology

  Affiliation Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia

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• Saber Masmoudi,

  Roles Methodology

  Affiliation Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax, Sfax, Tunisia

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• Dorra Hmida,

  Roles Investigation

  Affiliations Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia, Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia

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• Angela Brieger,

  Roles Supervision

  Affiliation Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany

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• Stefan Zeuzem,

  Roles Resources, Supervision

  Affiliation Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany

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• Ali Saad,

  Roles Project administration, Resources

  Affiliations Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia, Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia

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• Moez Gribaa,

  Roles Conceptualization, Investigation, Supervision, Validation

  Affiliations Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia, Faculty of Medicine Ibn El Jazzar of Sousse, University of Sousse, Sousse, Tunisia

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• Guido Plotz

  Roles Conceptualization, Data curation, Formal analysis, Methodology, Project administration, Resources, Supervision, Visualization, Writing – review & editing

  * E-mail: plotz@med.uni-frankfurt.de

  Affiliation Biomedical Research Laboratory, Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany

  https://orcid.org/0000-0001-5314-9739

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