Varaico: Literature-Extracted Genetic Variants

Gene:UQCRC1
Variant:p.I311L
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UQCRC1

NM_003365.3:p.I311L

Associated Papers

UQCRC1 deficiency impairs mitophagy via PINK1-dependent mechanisms in Parkinson's disease.

Li JL et al.

Npj Parkinson's Disease, 2026

Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people.

Jing X et al.

Npj Parkinson's Disease, 2025

A rare variant in the UQCRC1 gene, p.(Gly405Val) in three Austrian Parkinson's patients.

Brücke C et al.

Parkinsonism & Related Disorders, 2025

Recent advances in novel mutation genes of Parkinson's disease.

Yang J et al.

Journal of Neurology, 2023

Genetic Movement Disorders Commonly Seen in Asians.

Jagota P et al.

Movement Disorders Clinical Practice, 2023

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.

Jia F et al.

Genes, 2022

UQCRC1 variants in early-onset and familial Parkinson's disease in a Taiwanese cohort.

Liao TW et al.

Frontiers in Neurology, 2022

UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population.

Zhao YW et al.

Brain : a Journal of Neurology, 2021

Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.

Lin CH et al.

Brain : a Journal of Neurology, 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."