Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.D53N
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SULF2

NM_001387048.1:p.D53N

Associated Papers

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).

Uttarilli A et al.

Gene, 2017

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

Kantaputra PN et al.

American Journal of Medical Genetics. Part A, 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."