Associated Papers
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1
Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.
Choi S et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2025
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW et al.
Journal of Gastroenterology and Hepatology, 2024
Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations.
Sohn MJ et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
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