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Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

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  • Contributors KB, BU were involved in the study conception and design. AE, AB, FN, KV, AV, SH, VS, MH, KB, BU were involved in the acquisition of data. JP, AE, FN, KV, AV, SH, VS, PH, MH, KB, BU were involved in the analysis and interpretation of data. JP, AB, VS, PH, MH, KB, BU were involved in the drafting and revision of the manuscript. BU obtained funding and involved in the study supervision.

  • Funding This work was supported by the Juselius Foundation as well as the Finnish Academy (BU).

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval The study was carried out according to the ethical standards of the Helsinki declaration. All participants provided appropriate informed consent.

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