Varaico: Literature-Extracted Genetic Variants

Gene:PDSS2
Variant:p.R349*
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PDSS2

NM_020381.4:p.R349*

Associated Papers

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

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
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