Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.Q452_P454delFs
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COQ8B

NM_024876.4:p.Q452_P454delFs

Associated Papers

Cellular Models for Primary CoQ Deficiency Pathogenesis Study.

Santos-Ocaña C et al.

International Journal of Molecular Sciences, 2021

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

Maeoka Y et al.

Bmc Nephrology, 2020

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

Yao T et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2019

Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

Hughes BG et al.

Scientific Reports, 2017

29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › COQ8b

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

Ashraf S et al.

The Journal of Clinical Investigation, 2013

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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."