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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHPS

Variant:p.D262Splc

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DHPS

NM_001930.4:p.D262Splc

hg38:chr19:12677212 C>G

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

40883692 (PubMed )

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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."