Varaico: Literature-Extracted Genetic Variants

Gene:NANS
Variant:p.Y188H
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NANS

NM_018946.4:p.Y188H

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

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.

Graham Linck EJ et al.

Npj Genomic Medicine, 2020

32637154 (PubMed )
Supplement: 41525_2020_132_MOESM1_ESM.pdf

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CD et al.

Nature Genetics, 2016

Low-frequency NNRTI-resistant HIV-1 variants and relationship to mutational load in antiretroviral-naïve subjects.

Gupta S et al.

Viruses, 2014

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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."