Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.Q452*
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COQ8B

NM_024876.4:p.Q452*

Associated Papers

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.

Widmeier E et al.

Journal of the American Society of Nephrology : Jasn, 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."