Varaico: Literature-Extracted Genetic Variants

Gene:SEC24D
Variant:p.R484*
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SEC24D

NM_014822.4:p.R484*

Associated Papers

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

Zhang J et al.

Communications Biology, 2025

Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations.

Miao Y et al.

Frontiers in Pediatrics, 2022

Craniofacial Diseases Caused by Defects in Intracellular Trafficking.

Lu CL et al.

Genes, 2021

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.

Takeyari S et al.

American Journal of Medical Genetics. Part A, 2018

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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."