http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#head http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#assertion http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#provenance http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#assertion http://rdf.disgenet.org/resource/gda/DGNe90d435c4b0addcd7d665310e4cc5ee5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5205 http://rdf.disgenet.org/resource/gda/DGNe90d435c4b0addcd7d665310e4cc5ee5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268312 http://rdf.disgenet.org/resource/gda/DGNe90d435c4b0addcd7d665310e4cc5ee5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#provenance http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10975791 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/dc/terms/created 2017-10-17T13:15:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP800768.RANqyoCfRI7uqXML8LbbcPteHaanVqYZxRUMnercGrXKU http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0