https://pubmed.ncbi.nlm.nih.gov/17947449/
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and...
Progressive familial cholestasis (PFIC) 2 and benign recurrent intrahepatic cholestasis (BRIC) 2 are caused by mutations in the bile salt export pump (BSEP,...