Varaico: Literature-Extracted Genetic Variants

Gene:VPS13C
Variant:p.R269insFs
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VPS13C

NM_020821.3:p.R269insFs

Associated Papers

Two novel variants of VPS13C gene related Parkinsonism: A case report and literature review.

Jiang Y et al.

Medicine, 2026

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A

Current Neurology and Neuroscience Reports, 2017

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Lesage S et al.

American Journal of Human Genetics, 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."