Associated Papers
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
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.
Khabou B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Park HJ et al.
Scientific Reports, 2016
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Degiorgio D et al.
European Journal of Human Genetics : Ejhg, 2007
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