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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF5A

Variant:p.K55_V56Splc

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EIF5A

NM_001970.5:p.K55_V56Splc

hg38:chr17:7309801 G>A

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."