Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.V239G
Back to variants list

PDSS1

NM_014317.5:p.V239G

Associated Papers

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D et al.

Antioxidants (basel, Switzerland), 2023

Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency.

Bellusci M et al.

Jimd Reports, 2021

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Bravo-Alonso I et al.

Journal of Clinical Medicine, 2019

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_MOESM1_ESM.xlsx › Table_S4
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."