Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.R325G
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COQ2

NM_001358921.2:p.R325G

Associated Papers

Prenatal Diagnosis of COQ2 Variants in Suspected Coenzyme Q10 Deficiency.

Feng Z et al.

Kidney International Reports, 2025

Single-cell transcriptomics in a child with coenzyme Q10 nephropathy: potential of single-cell RNA sequencing in pediatric kidney disease.

Park PG et al.

Pediatric Nephrology (berlin, Germany), 2025

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D et al.

Antioxidants (basel, Switzerland), 2023

COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.

Li M et al.

Renal Failure, 2021

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

Ni HF et al.

Clinical Kidney Journal, 2021

34084467 (PubMed )
Supplement: sfab043_supplementary_data.pdf

[Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review].

Xu K et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018

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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."