Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.R29W
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SULF1

NM_001128205.2:p.R29W

Associated Papers

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).

Lin HY et al.

International Journal of Molecular Sciences, 2019

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

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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."