Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.R180C
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COQ8B

NM_024876.4:p.R180C

Associated Papers

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

Feng Y et al.

Human Molecular Genetics, 2025

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."