Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.
- NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion description "[Finally, in those children with cholestasis, high serum bile acids and low gamma glutamyltranspeptidase activity, analysis of mutation in FIC1 and bile salt export pump genes may lead to the diagnosis of progressive familial intrahepatic cholestasis either from bile salt export pump or FIC1 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.
- NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion evidence source_evidence_literature NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.
- NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion SIO_000772 10975791 NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.
- NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion wasDerivedFrom befree-2016 NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.
- NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_assertion wasGeneratedBy ECO_0000203 NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.
- befree-2016 importedOn "2016-02-19" NP294336.RALcvgOkUzNXhCZvH3gnYAZenKfroN6Ms41sCYxj1SmME130_provenance.