Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.R170R
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GBA1

NM_000157.4:p.R170R

Associated Papers

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine.

Makridou A et al.

Current Issues in Molecular Biology, 2025

The rapidly evolving view of lysosomal storage diseases.

Parenti G et al.

Embo Molecular Medicine, 2021

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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."