Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.R649H
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PLA2G6

NM_003560.4:p.R649H

Associated Papers

Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.

Menicucci L et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

Dehnavi AZ et al.

Orphanet Journal of Rare Diseases, 2023

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

Wan Y et al.

Frontiers in Neurology, 2022

Serum metabolomic characterization of PLA2G6-associated dystonia-parkinsonism: A case-control biomarker study.

Chen C et al.

Frontiers in Neuroscience, 2022

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

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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."