Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.D31N
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PLA2G6

NM_003560.4:p.D31N

Associated Papers

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Step K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.

Seibler P et al.

Brain : a Journal of Neurology, 2018

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease.

Ferese R et al.

Frontiers in Neurology, 2018

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

Guo YP et al.

Frontiers in Neurology, 2018

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.

Quadri M et al.

Neurogenetics, 2015

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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."