Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.V323M
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PLA2G6

NM_003560.4:p.V323M

Associated Papers

Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration.

Okubo S et al.

Journal of Human Genetics, 2025

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Kurtovic-Kozaric A et al.

Orphanet Journal of Rare Diseases, 2024

39425167 (PubMed )
Supplement: 13023_2024_3275_MOESM1_ESM.xlsx › Sheet1

A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review.

Cai D et al.

Frontiers in Neurology, 2024

Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.

Si L et al.

Neurogenetics, 2023

Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.

Cheng HL et al.

Brain Sciences, 2022

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.

Wan Y et al.

Frontiers in Neurology, 2022

Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature.

Gao L et al.

Frontiers in Neuroscience, 2022

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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."