Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.Q161H
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HSD17B4

NM_000414.4:p.Q161H

Associated Papers

[Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree].

Li L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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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."