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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
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  Data: Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2.
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  Data: <searchLink fieldCode="AU" term="%22Süncak+S%22">Süncak S</searchLink>; Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye. suzansuncak@outlook.com.<br /><searchLink fieldCode="AU" term="%22Tüysüz+B%22">Tüysüz B</searchLink>; İstanbul University Cerrahpasa, Cerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yıldırım+RN%22">Yıldırım RN</searchLink>; İzmir Biomedicine and Genome Center, İzmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Gürsoy+S%22">Gürsoy S</searchLink>; Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Uludağ+Alkaya+D%22">Uludağ Alkaya D</searchLink>; İstanbul University Cerrahpasa, Cerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İstanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Abacı+A%22">Abacı A</searchLink>; Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Özzeybek+E%22">Özzeybek E</searchLink>; İzmir Biomedicine and Genome Center, İzmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Batur+T%22">Batur T</searchLink>; İzmir Biomedicine and Genome Center, İzmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yaprak+İ%22">Yaprak İ</searchLink>; İzmir Biomedicine and Genome Center, İzmir, Türkiye.; İzmir International Biomedicine and Genome Institute, Dokuz Eylul University, İzmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22İşcan+E%22">İşcan E</searchLink>; İzmir Biomedicine and Genome Center, İzmir, Türkiye.; İzmir International Biomedicine and Genome Institute, Dokuz Eylul University, İzmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Giray+Bozkaya+Ö%22">Giray Bozkaya Ö</searchLink>; Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Türkiye.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Apr; Vol. 71 (4), pp. 195-202. <i>Date of Electronic Publication: </i>2025 Nov 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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              Text: 2026 Apr
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