Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.S384N
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GUSB

NM_000181.4:p.S384N

Associated Papers

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Filocamo M et al.

Italian Journal of Pediatrics, 2018

Epidemiology of mucopolysaccharidoses.

Khan SA et al.

Molecular Genetics and Metabolism, 2017

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

Chistiakov DA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."