Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.N244I
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GNE

NM_005476.7:p.N244I

Associated Papers

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

40225917 (PubMed )
Supplement: 7377504.f2.xlsx › Sheet1

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

Xu X et al.

Molecular Genetics and Metabolism, 2017

Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV et al.

Human Mutation, 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."