Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.D482N
Back to variants list

GBA1

NM_000157.4:p.D482N

Associated Papers

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

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

Flores-Ocampo V et al.

Genes, 2025

The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.

Giannini G et al.

Journal of Parkinson's Disease, 2024

38306061 (PubMed )
Supplement: jpd-14-jpd230334-s001.pdf

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

Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease.

Milanowski LM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Glucocerebrosidase mutations in primary parkinsonism.

Asselta R et al.

Parkinsonism & Related Disorders, 2014

The neuropathology of genetic Parkinson's disease.

Poulopoulos M et al.

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

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Neumann J et al.

Brain : a Journal of Neurology, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."