Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.P165S
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HGSNAT

NM_152419.3:p.P165S

Associated Papers

Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.

Romagnuolo M et al.

Children (basel, Switzerland), 2023

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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."