Varaico: Literature-Extracted Genetic Variants

Gene:SUMF2
Variant:p.M1R
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SUMF2

NM_015411.4:p.M1R

Associated Papers

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.

Schlotawa L et al.

International Journal of Molecular Sciences, 2020

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Cosma MP et al.

Human Mutation, 2004

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Cosma MP et al.

Cell, 2003

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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."