Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.A205V
Back to variants list

COQ8B

NM_024876.4:p.A205V

Associated Papers

Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report.

Zhang Y et al.

Bmc Nephrology, 2021

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

Zhai SB et al.

Bmc Nephrology, 2020

Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.

Rao J et al.

Clinical Genetics, 2019

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."