Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.R221fs
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PDSS1

NM_014317.5:p.R221fs

Associated Papers

Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era.

Berardo A et al.

Journal of Translational Genetics and Genomics, 2020

Clinical syndromes associated with Coenzyme Q10 deficiency.

Alcázar-Fabra M et al.

Essays in Biochemistry, 2018

Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.

Hughes BG et al.

Scientific Reports, 2017

29255295 (PubMed )
Supplement: 41598_2017_17564_MOESM3_ESM.xlsx › PDSS1
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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."