Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.W432C
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GBA1

NM_000157.4:p.W432C

Associated Papers

Understanding Parkinson disease in Spain: Genetic and clinical insights.

Gómez-Garre P et al.

European Journal of Neurology, 2025

39498811 (PubMed )
Supplement: ENE-32-e16499-s006.xlsx › Hoja1

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

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.

Ortiz-Cabrera NV et al.

Molecular Genetics and Metabolism Reports, 2016

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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."