Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.N253K
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COQ8B

NM_024876.4:p.N253K

Associated Papers

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

Zhai SB et al.

Bmc Nephrology, 2020

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

Maeoka Y et al.

Bmc Nephrology, 2020

Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.

Park E et al.

Pediatric Nephrology (berlin, Germany), 2017

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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."