Varaico: Literature-Extracted Genetic Variants

Gene:VPS13C
Variant:p.R269fs
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VPS13C

NM_020821.3:p.R269fs

Associated Papers

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.

Smolders S et al.

Acta Neuropathologica Communications, 2021

Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.

Darvish H et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

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."