Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.S463Splc
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GBA1

NM_000157.4:p.S463Splc

Associated Papers

A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.

Koros C et al.

Genes, 2024

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Gabbert C et al.

Bmc Genomics, 2023

37312046 (PubMed )
Supplement: 12864_2023_9417_MOESM1_ESM.pdf

Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.

Sawangareetrakul P et al.

Biomedical Reports, 2021

The relationship between glucocerebrosidase mutations and Parkinson disease.

Migdalska-Richards A et al.

Journal of Neurochemistry, 2016

Glucocerebrosidase mutations in Thai patients with Parkinson's disease.

Pulkes T et al.

Parkinsonism & Related Disorders, 2014

Genetic analysis of the glucocerebrosidase gene in South Indian patients with Parkinson's disease.

Yadav R et al.

Neurology India, 0

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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."