Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.R8R
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GNE

NM_005476.7:p.R8R

Associated Papers

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Bauché S et al.

Journal of Neurology, 2017

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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."