Varaico: Literature-Extracted Genetic Variants

Gene:CYCS
Variant:p.R39W
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CYCS

NM_018947.6:p.R39W

Associated Papers

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Higuchi Y et al.

Journal of Neurology, 2024

Altered structure and dynamics of pathogenic cytochrome c variants correlate with increased apoptotic activity.

Fellner M et al.

The Biochemical Journal, 2021

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Higuchi Y et al.

Brain : a Journal of Neurology, 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."