Varaico: Literature-Extracted Genetic Variants

Gene:STT3A
Variant:p.Y360S
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STT3A

NM_152713.5:p.Y360S

Associated Papers

Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.

Meng L et al.

Orphanet Journal of Rare Diseases, 2025

Factor VIII and vWF deficiency in STT3A-CDG.

Chang IJ et al.

Journal of Inherited Metabolic Disease, 2019

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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."