Varaico: Literature-Extracted Genetic Variants

Gene:VPS13C
Variant:p.W395C
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VPS13C

NM_020821.3:p.W395C

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

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

Jiang Y et al.

Medicine, 2026

Alternative pre-mRNA Splicing and Gene Expression Patterns in Midbrain Lineage Cells Carrying Familial Parkinson's Disease Mutations.

Lee YJ et al.

Biorxiv : the Preprint Server for Biology, 2025

iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.

Busquets O et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic Dissection of Vps13 Regulation in Yeast Using Disease Mutations from Human Orthologs.

Park JS et al.

International Journal of Molecular Sciences, 2021

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

PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

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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."