Varaico: Literature-Extracted Genetic Variants

Gene:VPS13C
Variant:p.R974K
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VPS13C

NM_020821.3:p.R974K

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Derivation of induced pluripotent stem cell TUSMi013-A from a 66-year-old Chinese Han Parkinson's disease patient carrying VPS13C and TBP mutations.

Cui C et al.

Stem Cell Research, 2025

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Willems SM et al.

Wellcome Open Research, 2023

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia.

Smaili I et al.

Case Reports in Genetics, 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."