Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.

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Title: Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
Authors: Johnson MB; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Russ-Silsby J; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Blair PA; Department of Immunobiology, King's College London, London, UK., Govier M; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Bonfield G; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Domingo-Vila C; Department of Immunobiology, King's College London, London, UK., Wakeling MN; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Oram RA; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Flanagan SE; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Tree TIM; Department of Immunobiology, King's College London, London, UK., Patel KA; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Hattersley AT; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., De Franco E; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. Electronic address: e.de-franco@exeter.ac.uk.
Corporate Authors: EXE-T1D consortium; Clinical and Biomedical Science, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., ATAC clinical consortium
Source: American journal of human genetics [Am J Hum Genet] 2026 Apr 02; Vol. 113 (4), pp. 877-887. Date of Electronic Publication: 2026 Mar 20.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2026.02.017