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Article

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

Journal of human genetics - 1 Apr 2026

Süncak Suzan, Tüysüz Beyhan, Yıldırım Ravza Nur, Gürsoy Semra, Uludağ Alkaya Dilek, Abacı Ayhan, Özzeybek Emre, Batur Tuğçe, Yaprak İnci, İşcan Evin, Giray Bozkaya Özlem

Abstract excerpt

SEC24D is a key component of the Coat Protein Complex II, which plays a critical role in the selective sorting and transport of cargo proteins from the endoplasmic reticulum. This function is particularly essential for the secretion of extracellular matrix proteins, including collagens. Biallelic pathogenic variants in SEC24D have been associated with Cole-Carpenter Syndrome 2, a rare skeletal dysplasia...

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Identifiers

PMID: 41188448
DOI: 10.1038/s10038-025-01426-x

Genes

SEC24D

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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