Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.V481L
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HGSNAT

NM_152419.3:p.V481L

Associated Papers

Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT).

Navratna V et al.

Biorxiv : the Preprint Server for Biology, 2024

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

Fedele AO et al.

Human Mutation, 2010

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

Feldhammer M et al.

Plos One, 2009

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M et al.

Human Mutation, 2009

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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."