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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEC24D

Variant:p.T957A

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SEC24D

NM_014822.4:p.T957A

hg38:chr4:118728650 T>C

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."