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A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis

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  • AAK and DB are equally contributing first authors.

  • MS-T and AMR are equally contributing senior authors.

  • Contributors Study concept, design and supervision: AMR and MS-T. Acquisition and analysis of genetic data: AAK, AMR, JA, KW-T and JB. Functional analysis: DB and MS-T. Patient enrolment, clinical data collection and interpretation: GO, KW and EK. Drafting the manuscript: AMR, AAK, MS-T and DB. Final approval of manuscript as submitted: all authors. AMR and MS-T contributed equally to this study. The first authors AAK and DB contributed equally to the laboratory experiments.

  • Funding This study was supported by the National Science Centre, Poland, grant 2015/19/B/NZ5/02224 (to AMR) and National Institutes of Health grant R01 DK058088 (to MS-T).

  • Competing interests None declared.

  • Ethics approval The study was approved by the Committee on Bioethics at Institute of Mother and Child (approval 28/2016).

  • Provenance and peer review Not commissioned; internally peer reviewed.

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