Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.H529R
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GBA1

NM_000157.4:p.H529R

Associated Papers

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

A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

den Heijer JM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

Crosiers D et al.

Neuroscience Letters, 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."