Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.H262Q
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GBA1

NM_000157.4:p.H262Q

Associated Papers

The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.

Jones-Tabah J et al.

Molecular Neurodegeneration, 2024

39587654 (PubMed )
Supplement: 13024_2024_779_MOESM1_ESM.xlsx › Supp_Table_13_-_gnomAD_CTSB_LOF

Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.

Curado F et al.

Diagnostics (basel, Switzerland), 2023

37685353 (PubMed )
Supplement: diagnostics-13-02812-s001.zip › diagnostics-2530284-supplementary.pdf
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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."