Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.A97V
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GBA1

NM_000157.4:p.A97V

Associated Papers

Impact of ER stress and the unfolded protein response on Fabry disease.

Lenders M et al.

Ebiomedicine, 2025

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

Ishii S et al.

The Biochemical Journal, 2007

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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."