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Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2.

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Title: Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2.
Authors: Süncak S; Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye. suzansuncak@outlook.com., Tüysüz B; İstanbul University Cerrahpasa, Cerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul, Türkiye., Yıldırım RN; İzmir Biomedicine and Genome Center, İzmir, Türkiye., Gürsoy S; Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye., Uludağ Alkaya D; İstanbul University Cerrahpasa, Cerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul, Türkiye., Abacı A; Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, Türkiye., Özzeybek E; İzmir Biomedicine and Genome Center, İzmir, Türkiye., Batur T; İzmir Biomedicine and Genome Center, İzmir, Türkiye., Yaprak İ; İzmir Biomedicine and Genome Center, İzmir, Türkiye.; İzmir International Biomedicine and Genome Institute, Dokuz Eylul University, İzmir, Türkiye., İşcan E; İzmir Biomedicine and Genome Center, İzmir, Türkiye.; İzmir International Biomedicine and Genome Institute, Dokuz Eylul University, İzmir, Türkiye., Giray Bozkaya Ö; Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye.
Source: Journal of human genetics [J Hum Genet] 2026 Apr; Vol. 71 (4), pp. 195-202. Date of Electronic Publication: 2025 Nov 05.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1435-232X
DOI:10.1038/s10038-025-01426-x