Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.T144N
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COQ4

NM_016035.5:p.T144N

Associated Papers

Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals.

Watanabe C et al.

Brain & Development, 2025

Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.

Watanabe C et al.

Molecular Genetics and Metabolism Reports, 2023

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.

Ogawa E et al.

Journal of Inherited Metabolic Disease, 2020

31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
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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."