Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.W432R
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GBA1

NM_000157.4:p.W432R

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.

Pachchek S et al.

Npj Parkinson's Disease, 2023

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

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.

Setó-Salvia N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

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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."