Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.R941*
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ATP8B1

NM_001374385.1:p.R941*

Associated Papers

ATP8B1 Deficiency Causes Phosphodiesterase 4-Mediated Glucagon Resistance and Impaired Gluconeogenesis in Mouse and Human Liver.

Chang JC et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

van Wessel DBE et al.

Hepatology (baltimore, Md.), 2021

33666275 (PubMed )
Supplement: HEP-74-892-s001.pdf

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang NL et al.

Plos One, 2016

Hypothyroidism Associated with ATP8B1 Deficiency.

Li L et al.

The Journal of Pediatrics, 2015

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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."