Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.L205delFs
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AKR1D1

NM_005989.4:p.L205delFs

Associated Papers

∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.

Gardin A et al.

Orphanet Journal of Rare Diseases, 2023

Genetic background and clinical characteristics of infantile hyperammonemia.

Li M et al.

Translational Pediatrics, 2023

Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes.

Zhang MH et al.

World Journal of Gastroenterology, 2019

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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."