Varaico: Literature-Extracted Genetic Variants

Gene:PDSS1
Variant:p.F136C
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PDSS1

NM_014317.5:p.F136C

Associated Papers

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

A Rare Variant of ANK3 Is Associated With Intracranial Aneurysm.

Liu J et al.

Frontiers in Neurology, 2021

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."