Varaico: Literature-Extracted Genetic Variants

Gene:DHPS
Variant:p.M1V
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DHPS

NM_001930.4:p.M1V

Associated Papers

Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.

Padgett LR et al.

Hgg Advances, 2023

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

Park MH et al.

Amino Acids, 2022

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.

Ganapathi M et al.

American Journal of Human Genetics, 2019

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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."