Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.M332R
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SULF1

NM_001128205.2:p.M332R

Associated Papers

Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression.

Broeders M et al.

Frontiers in Bioengineering and Biotechnology, 2022

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.

Broeders M et al.

Molecular Therapy. Methods & Clinical Development, 2020

33209960 (PubMed )
Supplement: mmc2.pdf

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Ferla R et al.

Human Gene Therapy, 2015

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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."