Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.V243L
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HSD17B4

NM_001199291.3:p.V243L

Associated Papers

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.

Erdal AE et al.

Molecular Syndromology, 2026

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

Binary structure of the two-domain (3R)-hydroxyacyl-CoA dehydrogenase from rat peroxisomal multifunctional enzyme type 2 at 2.38 A resolution.

Haapalainen AM et al.

Structure (london, England : 1993), 2003

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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."