Varaico: Literature-Extracted Genetic Variants

Gene:GBA2
Variant:p.E505_L506ins4
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GBA2

NM_020944.3:p.E505_L506ins4

Associated Papers

High β-glucosidase (GBA) activity not attributable to GBA1 and GBA2 in live normal and enzyme-deficient fibroblasts may emphasise the role of additional GBAs.

Harzer K et al.

Biological Chemistry, 2015

Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans.

Harzer K et al.

Biochemical and Biophysical Research Communications, 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."