Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.L656V
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PLA2G6

NM_003560.4:p.L656V

Associated Papers

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

Effect of PLA2G6 and SMPD1 Variants on the Lipid Metabolism in the Cerebrospinal Fluid of Patients with Parkinson's Disease: A Non-targeted Lipidomics Study.

Li Y et al.

Neurology and Therapy, 2023

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

Lack of Association Between PLA2G6 Genetic Variation and Parkinson's Disease: A Systematic Review.

Liu H et al.

Neuropsychiatric Disease and Treatment, 2020

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.

Shen T et al.

Frontiers in Neurology, 2019

Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.

Shen T et al.

Scientific Reports, 2018

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.

Guo YP et al.

Frontiers in Neurology, 2018

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.

Kapoor S et al.

Plos One, 2016

27196560 (PubMed )
Supplement: pone.0155605.s001.pdf

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.

Yamamoto T et al.

Human Genome Variation, 2015

27081553 (PubMed )
Supplement: hgv201548-s2.xls › Table_S2

Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease.

Gui YX et al.

Parkinsonism & Related Disorders, 2013

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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."