Varaico: Literature-Extracted Genetic Variants

Gene:EIF5A
Variant:p.R109G
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EIF5A

NM_001970.5:p.R109G

Associated Papers

eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.

Beltrán-Corbellini Á et al.

Journal of Neurodevelopmental Disorders, 2025

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › _4_position

Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment.

Park MH et al.

Amino Acids, 2022

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Faundes V et al.

Nature Communications, 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."