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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKR1D1

Variant:p.H93delFs

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AKR1D1

NM_005989.4:p.H93delFs

hg38:chr7:138091783 CA>C

Associated Papers

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

30809085 (PubMed )

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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."