Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.D250N
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COQ8B

NM_024876.4:p.D250N

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

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D et al.

Antioxidants (basel, Switzerland), 2023

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

Liang R et al.

Frontiers in Pediatrics, 2022

Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.

Fareed M et al.

Scientific Reports, 2021

A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes.

Maeoka Y et al.

Bmc Nephrology, 2020

COQ8B nephropathy: Early detection and optimal treatment.

Song X et al.

Molecular Genetics & Genomic Medicine, 2020

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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."