Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.T325A
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COQ2

NM_015697.9:p.T325A

Associated Papers

Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.

Feng Z et al.

Kidney International Reports, 2025

Glomerular basement membrane ultrastructural changes in a patient with COQ2 glomerulopathy: A case report.

Sun L et al.

Nephrology (carlton, Vic.), 2024

An AlphaFold Structure Analysis of COQ2 as Key a Component of the Coenzyme Q Synthesis Complex.

Vargas-Pérez MLÁ et al.

Antioxidants (basel, Switzerland), 2024

Myeloid bodies caused by COQ2 mutation: a case of concurrent COQ2 nephropathy and IgA nephropathy.

Ni HF et al.

Clinical Kidney Journal, 2021

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.

Abdelhakim AH et al.

Orphanet Journal of Rare Diseases, 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."