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- source_evidence_literature type ECO_0000212 NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.
- befree-2016 importedOn "2016-02-19" NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.
- NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_assertion wasGeneratedBy ECO_0000203 NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.
- NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_assertion wasDerivedFrom befree-2016 NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.
- NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_assertion SIO_000772 15888793 NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.
- NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_assertion evidence source_evidence_literature NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.
- NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_assertion description "[Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494416.RAjsum4dcOKMc-fiaODxTm-MALiEFRtAVpiZ9wfldhGwU130_provenance.