Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.V373_Q374ins0
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PDSS1

NM_014317.5:p.V373_Q374ins0

Associated Papers

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."