Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.F213I
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GAA

NM_000152.5:p.F213I

Associated Papers

Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.

García-Moreno MI et al.

European Journal of Medicinal Chemistry, 2026

Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.

Keyzor I et al.

Biomolecules, 2023

37627292 (PubMed )
Supplement: biomolecules-13-01227-s001.zip › biomolecules-2489010-supplementary.pdf

The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases.

Luan Z et al.

Blood Cells, Molecules & Diseases, 2010

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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."