Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.D510N
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HSD17B4

NM_000414.4:p.D510N

Associated Papers

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.

Diaz-Moreno U et al.

Journal of Inherited Metabolic Disease, 2026

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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."