Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.D409H
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SULF1

NM_001128205.2:p.D409H

Associated Papers

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.

Montenegro YHA et al.

Diseases (basel, Switzerland), 2025

From sheep to mice to cells: tools for the study of the sphingolipidoses.

Zigdon H et al.

Biochimica Et Biophysica Acta, 2014

Neuronopathic lysosomal storage diseases: clinical and pathologic findings.

Prada CE et al.

Developmental Disabilities Research Reviews, 2013

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK et al.

Pediatric Research, 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."