Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.C228R
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COQ2

NM_001358921.2:p.C228R

Associated Papers

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

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

Abdelhakim AH et al.

Orphanet Journal of Rare Diseases, 2020

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.

Wu X et al.

Bmc Medical Genetics, 2019

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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."