Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.Y706C
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GNE

NM_001128227.3:p.Y706C

Associated Papers

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

Jiao K et al.

Journal of Medical Genetics, 2024

Clinical, genetic, and pathological characterization of GNE myopathy in China.

Lv XQ et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.

Nonaka I et al.

Current Neurology and Neuroscience Reports, 2005

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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."