Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant

• Cristina Pastorino,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Visualization, Writing – original draft

  Affiliation Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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• Ludovica Menta,

  Roles Data curation, Formal analysis, Investigation, Methodology, Visualization

  Affiliation Department of Neurosciences, rehabilitation, Ophthalmology; Genetics and Maternal and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy

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• Emanuela Pesce,

  Roles Data curation, Formal analysis, Investigation, Methodology

  Affiliations Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Department of Neurosciences, rehabilitation, Ophthalmology; Genetics and Maternal and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy

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• Mariateresa Lena,

  Roles Formal analysis, Investigation, Methodology

  Affiliation Department of Neurosciences, rehabilitation, Ophthalmology; Genetics and Maternal and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy

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• Valeria Tomati,

  Roles Data curation, Formal analysis, Investigation, Methodology

  Affiliation Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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• Valeria Capurro,

  Roles Data curation, Formal analysis, Investigation, Methodology

  Affiliation Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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• Marco Di Duca,

  Roles Methodology

  Affiliation Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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• Vito Terlizzi,

  Roles Supervision, Writing – review & editing

  Affiliation Department of Pediatric Medicine, Meyer Children’s Hospital IRCCS, Cystic Fibrosis Regional Reference Centre, Florence, Italy

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• Andrea Gramegna,

  Roles Supervision, Writing – review & editing

  Affiliations Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

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• Francesco Blasi,

  Roles Supervision, Writing – review & editing

  Affiliations Respiratory Unit and Cystic Fibrosis Adult Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

  https://orcid.org/0000-0002-2285-9970

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• Carlo Castellani,

  Roles Supervision, Writing – review & editing

  Affiliation Cystic Fibrosis Center, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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• Serena Cappato,

  Roles Data curation, Formal analysis, Investigation, Methodology

  Affiliation Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

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• Federico Zara,

  Roles Resources, Supervision, Writing – review & editing

  Affiliations Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Department of Neurosciences, rehabilitation, Ophthalmology; Genetics and Maternal and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy

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• Nicoletta Pedemonte ,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Project administration, Resources, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: nicolettapedemonte@gaslini.org

  Affiliation Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

  https://orcid.org/0000-0002-5161-1720

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• Renata Bocciardi

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Project administration, Resources, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Department of Neurosciences, rehabilitation, Ophthalmology; Genetics and Maternal and Child Sciences (DINOGMI), University of Genoa, Genoa, Italy

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