Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.A147D
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NANS

NM_018946.4:p.A147D

Associated Papers

Biosynthetic and genetic pathways related to sialic acid metabolism.

Huang S et al.

The Journal of Biological Chemistry, 2026

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

den Hollander B et al.

Journal of Inherited Metabolic Disease, 2023

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

den Hollander B et al.

Frontiers in Neurology, 2021

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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."