Varaico: Literature-Extracted Genetic Variants

Gene:SUMF2
Variant:p.R250delFs
Back to variants list

SUMF2

NM_015411.4:p.R250delFs

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

Sulfatases and human disease.

Diez-Roux G et al.

Annual Review of Genomics and Human Genetics, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."