Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.V101L
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SULF2

NM_001387048.1:p.V101L

Associated Papers

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Montaño AM et al.

Journal of Inherited Metabolic Disease, 2007

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

Sukegawa K et al.

Human Molecular Genetics, 2000

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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."