Varaico: Literature-Extracted Genetic Variants

Gene:CYC1
Variant:p.R317W
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CYC1

NM_001916.5:p.R317W

Associated Papers

Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.

Hosseinpour S et al.

Brain & Development, 2024

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathy.

Heidari E et al.

Mitochondrion, 2021

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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."