Varaico: Literature-Extracted Genetic Variants

Gene:VPS26A
Variant:p.M112V
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VPS26A

NM_004896.5:p.M112V

Associated Papers

MicroRNAs and rs1803274 SNP-based BuChe downregulation are associated with metabolic syndrome through ghrelin hydrolysis and expression quantitative trait loci regulation in PD patients.

Chevalier G et al.

Frontiers in Molecular Neuroscience, 2025

Coatopathies: Genetic Disorders of Protein Coats.

Dell'Angelica EC et al.

Annual Review of Cell and Developmental Biology, 2019

Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins.

McMillan KJ et al.

The Journal of Cell Biology, 2016

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease.

Gambardella S et al.

Frontiers in Neuroscience, 2016

Genetic variability of the retromer cargo recognition complex in parkinsonism.

Gustavsson EK et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."