@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_head { this: np:hasAssertion dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_assertion; np:hasProvenance dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_provenance; np:hasPublicationInfo dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_publicationInfo; a np:Nanopublication . dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_assertion a np:Assertion . dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_provenance a np:Provenance . dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_publicationInfo a np:PublicationInfo . } dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_assertion { miriam-gene:7361 a ncit:C16612 . lld:C0008350 a ncit:C7057 . dgn-gda:DGN76d8cbb5c1e9311d9fb7c8d05b18754c sio:SIO_000628 miriam-gene:7361, lld:C0008350; a sio:SIO_001121 . } dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_provenance { dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_assertion dcterms:description "[Both patients developed gallstones; however the father, who had undergone surgery for the removal of stones, had extremely severe intrahepatic cholestasis and, liver biopsy revealed fibrosis and siderosis grade III, leading us to believe that the homozygosity of the UGT1A polymorphism was responsible for the more severe clinical features in the father.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:25153905; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1213526.RAi2UnAxH6mPj3-d7cCGJVL0YEjxOAlC0nrnVsflFFhp0130_publicationInfo { this: dcterms:created "2016-05-13T12:50:56+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }