Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.R271R
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ATP8B1

NM_001374385.1:p.R271R

Associated Papers

Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.

Hang C et al.

Journal of Clinical Medicine, 2022

36012923 (PubMed )
Supplement: jcm-11-04684-s001.zip › jcm-1802822-Table_S1.xlsx › Table_S1

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.

Dröge C et al.

Journal of Hepatology, 2017

Clinical analysis of genome next-generation sequencing data using the Omicia platform.

Coonrod EM et al.

Expert Review of Molecular Diagnostics, 2013

Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma.

Blackmore L et al.

Journal of Clinical and Experimental Hepatology, 2013

Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

van der Woerd WL et al.

Plos One, 2013

Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.

Schneider G et al.

Hepatology (baltimore, Md.), 2007

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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."