Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.D317H
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SGSH

NM_000199.5:p.D317H

Associated Papers

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

Sidhu NS et al.

Acta Crystallographica. Section D, Biological Crystallography, 2014

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

Ebrahimi-Fakhari D et al.

Movement Disorders Clinical Practice, 0

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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."