Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.L271H
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GNE

NM_001128227.3:p.L271H

Associated Papers

Biosynthetic and genetic pathways related to sialic acid metabolism.

Huang S et al.

The Journal of Biological Chemistry, 2026

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Jiao K et al.

Journal of Medical Genetics, 2024

Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.

Jiao K et al.

Muscle & Nerve, 2024

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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."