Associated Papers
Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.
Feng Z et al.
Kidney International Reports, 2025
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
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
Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China.
Zhang H et al.
Intractable & Rare Diseases Research, 2017
Select a paper to view details