Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.V379delFs
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SGSH

NM_000199.5:p.V379delFs

Associated Papers

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.

Wijburg FA et al.

Molecular Genetics and Metabolism, 2022

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

Chistiakov DA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N et al.

Human Mutation, 2004

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

Yogalingam G et al.

Human Mutation, 2001

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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."