Varaico: Literature-Extracted Genetic Variants

Gene:SEC24D
Variant:p.P38insFs
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SEC24D

NM_014822.4:p.P38insFs

Associated Papers

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

Essawi O et al.

Scientific Reports, 2026

41495099 (PubMed )
Supplement: 41598_2025_29937_MOESM1_ESM.pdf

SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.

Zhang J et al.

Communications Biology, 2025

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.

Moosa S et al.

Clinical Genetics, 2016

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