Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.H489Y
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COQ8B

NM_024876.4:p.H489Y

Associated Papers

Coenzyme Q10 supplementation in adult-onset focal segmental glomerulosclerosis caused by the Chinese common pathogenic variant c.737G > A (p.Ser246Asn) in the COQ8B gene.

Jin S et al.

Renal Failure, 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

Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review.

Zhang L et al.

Frontiers in Pediatrics, 2024

The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.

Zhu X et al.

Frontiers in Medicine, 2022

35755072 (PubMed )
Supplement: Data_Sheet_1.PDF

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

Liang R et al.

Frontiers in Pediatrics, 2022

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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."