Varaico: Literature-Extracted Genetic Variants

Gene:COQ5
Variant:p.Q227_A228Splc
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COQ5

NM_032314.4:p.Q227_A228Splc

Associated Papers

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.

Jiang Y et al.

Biomolecules, 2025

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

Jurkute N et al.

Npj Genomic Medicine, 2022

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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."