Varaico: Literature-Extracted Genetic Variants

Gene:AKR1D1
Variant:p.K126_P127Splc
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AKR1D1

NM_005989.4:p.K126_P127Splc

Associated Papers

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

Hudson J et al.

American Journal of Medical Genetics. Part A, 2025

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

Kimura A et al.

Jpgn Reports, 2023

Inborn errors of bile acid metabolism in Japan.

Mizuochi T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2023

Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.

Kimura A et al.

Digestive Diseases and Sciences, 2021

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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."