Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.R104M
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HSD17B4

NM_000414.4:p.R104M

Associated Papers

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

Erdal AE et al.

Molecular Syndromology, 2026

On the molecular basis of D-bifunctional protein deficiency type III.

Mehtälä ML et al.

Plos One, 2013

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.

Soorani-Lunsing RJ et al.

Journal of Inherited Metabolic Disease, 2005

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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."