@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:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_head { this: np:hasAssertion dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_assertion; np:hasProvenance dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_provenance; np:hasPublicationInfo dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_publicationInfo; a np:Nanopublication . dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_assertion a np:Assertion . dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_provenance a np:Provenance . dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_publicationInfo a np:PublicationInfo . } dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_assertion { miriam-gene:4010 a ncit:C16612 . lld:C0027341 a ncit:C7057 . dgn-gda:DGN3ae6048c378b437499d1952ea10b8831 sio:SIO_000628 miriam-gene:4010, lld:C0027341; a sio:SIO_001121 . } dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_provenance { dgn-np:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_assertion dcterms:description "[Nail-patella syndrome (NPS), an autosomal dominant disorder characterized by nail dysplasia, absent or hypoplastic patellae, iliac horns, and often associated with nephropathy and, less frequently, with open angle glaucoma, is caused by mutations in the LMX1B gene.]. 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:12792813; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP218890.RAAz-1OX6ZQHLou1w-7cpjCMhjTYK9qxg1GQf8PW-87Sk130_publicationInfo { this: dcterms:created "2014-10-02T12:34:01+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }