Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.Y251H
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GBA1

NM_000157.4:p.Y251H

Associated Papers

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

Flores-Ocampo V et al.

Genes, 2025

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

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

Hematologically important mutations: Gaucher disease.

Beutler E et al.

Blood Cells, Molecules & Diseases, 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."