Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.A54V
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HGSNAT

NM_152419.3:p.A54V

Associated Papers

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

Navratna V et al.

Biorxiv : the Preprint Server for Biology, 2024

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

Canals I et al.

Clinical Genetics, 2011

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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."