Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.C306R
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ATP8B1

NM_001374385.1:p.C306R

Associated Papers

Optimal liver transplant procedure in progressive familial intrahepatic cholestasis type 1 treated with biliary diversion or intestinal transplantation: Lessons learned from three cases treated with different approaches.

Uchida H et al.

Pediatric Transplantation, 2023

Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.

Mizutani A et al.

Hepatology Communications, 2021

Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.

Hayashi H et al.

Ebiomedicine, 2018

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

Togawa T et al.

The Journal of Pediatrics, 2016

Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation.

Uegaki S et al.

Internal Medicine (tokyo, Japan), 2008

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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."