Varaico: Literature-Extracted Genetic Variants

Gene:DHRS9
Variant:p.P133R
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DHRS9

NM_001376924.1:p.P133R

Associated Papers

In-Depth Dissection of the P133R Mutation in Steroid 5β-Reductase (AKR1D1): A Molecular Basis of Bile Acid Deficiency.

Chen M et al.

Biochemistry, 2015

Disorders of bile acid synthesis.

Clayton PT

Journal of Inherited Metabolic Disease, 2011

The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function.

Mindnich R et al.

Chemico-biological Interactions, 2011

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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."