Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Y28Y
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SDS

NM_006843.3:p.Y28Y

Associated Papers

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

Sukegawa-Hayasaka K et al.

Journal of Inherited Metabolic Disease, 2006

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.

Millat G et al.

The Biochemical Journal, 1997

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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."