Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.T319M
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PLA2G6

NM_003560.4:p.T319M

Associated Papers

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

Rescue Right Pallidotomy and Left Thalamotomy in a patient with PLA2G6-associated Refractory Status Dystonicus and Tremor.

Farsana MK et al.

Journal of Movement Disorders, 2025

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

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

PLA2G6-associated late-onset parkinsonism in a Sudanese family.

Bakhit Y et al.

Annals of Clinical and Translational Neurology, 2023

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.

Kolarova H et al.

Ebiomedicine, 2022

35180557 (PubMed )
Supplement: mmc3.xlsx › List1

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

Magrinelli F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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

Wan Y et al.

Frontiers in Neurology, 2022

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

Guo YP et al.

Frontiers in Neurology, 2018

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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."