Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.G76E
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GLB1

NM_000404.4:p.G76E

Associated Papers

GM1 Gangliosidosis: Mechanisms and Management.

Rha AK et al.

The Application of Clinical Genetics, 2021

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

Front S et al.

European Journal of Medicinal Chemistry, 2017

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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."