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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COQ2

Variant:p.V113_V114delins

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COQ2

NM_015697.9:p.V113_V114delins

hg38:chr4:83284574 ACCA>C

Associated Papers

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

Jurkute N et al.

Npj Genomic Medicine, 2022

36266294 (PubMed )

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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."