Varaico: Literature-Extracted Genetic Variants

Gene:VPS13C
Variant:p.I288M
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VPS13C

NM_020821.3:p.I288M

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

33579389 (PubMed )
Supplement: 40478_2021_1121_MOESM1_ESM.docx

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Orme T et al.

Acta Neuropathologica Communications, 2020

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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."