Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.R515G
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GBE1

NM_000158.4:p.R515G

Associated Papers

Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.

Taylor A et al.

Molecular Genetics and Metabolism, 2025

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Dugue AG et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2025

Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.

Carvalho A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

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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."