Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.G223E
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F2

NM_000506.5:p.G223E

Associated Papers

Healthy Patients With AKR1D1 Mutation Not Requiring Primary Bile Acid Therapy: A Case Series.

Kimura A et al.

Jpgn Reports, 2023

Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.

Wang HH et al.

World Journal of Gastroenterology, 2018

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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."