Associated Papers
Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.
Moral K et al.
Diagnostics (basel, Switzerland), 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
39521930 (PubMed )
Supplement: 41598_2024_79123_MOESM1_ESM.pdf
Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
Chen R et al.
Orphanet Journal of Rare Diseases, 2022
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS et al.
Hepatology Communications, 2022
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