Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.P454L
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GBA1

NM_000157.4:p.P454L

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

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

Koros C et al.

Genes, 2024

Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.

Kamath SD et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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

Koros C et al.

Genes, 2023

A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.

Sipilä JOT et al.

Npj Parkinson's Disease, 2023

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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."