Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.D250Y
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COQ8B

NM_024876.4:p.D250Y

Associated Papers

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

Fareed M et al.

Scientific Reports, 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

Early-onset of ADCK4 glomerulopathy with renal failure: a case report.

Lolin K et al.

Bmc Medical Genetics, 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."