Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.L366F
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GALNS

NM_000512.5:p.L366F

Associated Papers

Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.

Olarte-Avellaneda S et al.

Molecular Biology Reports, 2014

The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.

Rivera-Colón Y et al.

Journal of Molecular Biology, 2012

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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."