Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.N457D
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HSD17B4

NM_000414.4:p.N457D

Associated Papers

Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.

Konkoľová J et al.

Gene, 2015

Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity.

Tsuchida S et al.

Molecular Genetics and Metabolism Reports, 2015

Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2.

Koski KM et al.

Journal of Molecular Biology, 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."