Varaico: Literature-Extracted Genetic Variants

Gene:DHPS
Variant:p.V304_I306del0
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DHPS

NM_001930.4:p.V304_I306del0

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

Structural Insights into the Mechanisms Underlying Polyaminopathies.

Wu B et al.

International Journal of Molecular Sciences, 2024

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."