Varaico: Literature-Extracted Genetic Variants

Gene:DPH5
Variant:p.R207*
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DPH5

NM_015958.3:p.R207*

Associated Papers

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

Politano D et al.

Genes, 2025

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.

Shankar SP et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Influence of DPH1 and DPH5 Protein Variants on the Synthesis of Diphthamide, the Target of ADPRibosylating Toxins.

Mayer K et al.

Toxins, 2017

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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."