Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2. - Süncak S; Tüysüz B; Yıldırım RN; Gürsoy S; Uludağ Alkaya D; Abacı A; Özzeybek E; Batur T; Yaprak İ; İşcan E; Giray Bozkaya Ö (Journal of human genetics, 2026)