Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.R490C
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COQ8B

NM_024876.4:p.R490C

Associated Papers

Successful Living Kidney Donation from Heterozygous Carrier Parents to Siblings with Coenzyme Q8B Nephropathy: Two Case Series.

Morita K et al.

Nephron, 2025

COQ8B gene deficiency as a potential cause of retinal abnormalities in Pediatric kidney transplant recipients.

Feng Y et al.

Human Molecular Genetics, 2025

Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.

Feng Y et al.

Orphanet Journal of Rare Diseases, 2024

39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.

Jung J et al.

Clinical Genetics, 2023

Clinical features and gene variation analysis of COQ8B nephropathy: Report of seven cases.

Liang R et al.

Frontiers in Pediatrics, 2022

Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.

Zhai SB et al.

Bmc Nephrology, 2020

COQ8B nephropathy: Early detection and optimal treatment.

Song X et al.

Molecular Genetics & Genomic Medicine, 2020

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.

Nagano C et al.

Scientific Reports, 2020

Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.

Feng C et al.

Medicine, 2017

Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.

Park E et al.

Pediatric Nephrology (berlin, Germany), 2017

Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Wang F et al.

Pediatric Nephrology (berlin, Germany), 2017

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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."