@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:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_head { this: np:hasAssertion dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_assertion; np:hasProvenance dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_provenance; np:hasPublicationInfo dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_publicationInfo; a np:Nanopublication . dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_assertion a np:Assertion . dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_provenance a np:Provenance . dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_publicationInfo a np:PublicationInfo . } dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_assertion { miriam-gene:5205 a ncit:C16612 . lld:C0268312 a ncit:C7057 . dgn-gda:DGN6562207a8182a8fbe3eb577a7972d473 sio:SIO_000628 miriam-gene:5205, lld:C0268312; a sio:SIO_001121 . } dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_provenance { dgn-np:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_assertion dcterms:description "[We searched for FIC1 mutations and analyzed the outcome of extrahepatic features after liver transplantation in two children with this form of progressive familial intrahepatic cholestasis associated with chronic unexplained diarrhea and short stature.]. 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:12927934; 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:NP406095.RADnK0j0S6CzfhuU2R9HJ8VLI6m7Kkxq_KiScObDeG1As130_publicationInfo { this: dcterms:created "2016-05-13T12:44:49+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" . }