Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.W284Splc
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HGSNAT

NM_152419.3:p.W284Splc

Associated Papers

Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.

Liang Y et al.

Metabolic Brain Disease, 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."