Varaico: Literature-Extracted Genetic Variants

Gene:VPS13C
Variant:p.A1072Splc
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VPS13C

NM_020821.3:p.A1072Splc

Associated Papers

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

Jiang Y et al.

Medicine, 2026

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

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Schormair B et al.

Clinical Genetics, 2018

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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."