Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.V52A
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PDSS2

NM_020381.4:p.V52A

Associated Papers

Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.

González-García P et al.

Human Molecular Genetics, 2020

32975579 (PubMed )
Supplement: supplemental_material_gonzalez-garcia_hmg2020_ddaa214.pdf

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Brea-Calvo G et al.

American Journal of Human Genetics, 2015

25658047 (PubMed )
Supplement: mmc2.pdf
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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."