Varaico: Literature-Extracted Genetic Variants

Gene:CHCHD2
Variant:p.Y99*
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CHCHD2

NM_016139.4:p.Y99*

Associated Papers

WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.

Kafantari E et al.

Genes, 2025

Loss of CHCHD2 Stability Coordinates with C1QBP/CHCHD2/CHCHD10 Complex Impairment to Mediate PD-Linked Mitochondrial Dysfunction.

Ren YL et al.

Molecular Neurobiology, 2024

The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Chen YP et al.

European Journal of Neurology, 2022

Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.

Hua P et al.

Frontiers in Aging Neuroscience, 2022

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

Funayama M et al.

The Lancet. Neurology, 2015

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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."