Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.V442M
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COQ8B

NM_024876.4:p.V442M

Associated Papers

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.

Iglesias-Romero AB et al.

American Journal of Human Genetics, 2024

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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."