Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.S359_K360Splc
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PLA2G6

NM_003560.4:p.S359_K360Splc

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

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

Magrinelli F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

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

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

Guo YP et al.

Frontiers in Neurology, 2018

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

Malaguti MC et al.

Parkinsonism & Related Disorders, 2015

The genetics and neuropathology of Parkinson's disease.

Houlden H et al.

Acta Neuropathologica, 2012

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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."