Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.P86L
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SULF2

NM_001387048.1:p.P86L

Associated Papers

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Lampe C et al.

Jimd Reports, 2014

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

COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations.

Millat G et al.

Biochimica Et Biophysica Acta, 1998

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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."