Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.R625delFs
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GUSB

NM_000181.4:p.R625delFs

Associated Papers

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

Feo F et al.

European Journal of Neurology, 2025

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Tomatsu S et al.

Human Mutation, 2009

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning.

Okuno T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."