Varaico: Literature-Extracted Genetic Variants

Gene:SELENOI
Variant:p.P45L
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SELENOI

NM_033505.4:p.P45L

Associated Papers

Selenoprotein I is indispensable for ether lipid homeostasis and proper myelination.

Nunes LGA et al.

The Journal of Biological Chemistry, 2024

Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.

Nunes LGA et al.

Archives of Biochemistry and Biophysics, 2022

Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.

Kaiyrzhanov R et al.

Brain : a Journal of Neurology, 2021

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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."