Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.L5R
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HSD17B4

NM_000414.4:p.L5R

Associated Papers

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.

Landau YE et al.

Molecular Genetics and Metabolism Reports, 2020

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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."