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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 16394881 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[It is concluded that this form of compound heterozygosity of the BSEP gene reduces the amount of BSEP protein due to protein instability or mis-targeting, which is the underlying reason for reduced bile salt excretion and cholemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.