Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.Q30*
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GNE

NM_001128227.3:p.Q30*

Associated Papers

Biosynthetic and genetic pathways related to sialic acid metabolism.

Huang S et al.

The Journal of Biological Chemistry, 2026

Molecular genetics and therapeutic development for GNE myopathy.

Yoshioka W et al.

Journal of Human Genetics, 2025

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.

Xing Y et al.

Orphanet Journal of Rare Diseases, 2025

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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."