@prefix dct: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_head { this: np:hasAssertion dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_assertion; np:hasProvenance dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_provenance; np:hasPublicationInfo dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_publicationInfo; a np:Nanopublication . dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_assertion a np:Assertion . dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_provenance a np:Provenance . dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_assertion { miriam-gene:249 a ncit:C16612 . lld:C0268412 a ncit:C7057 . dgn-gda:DGN39d45c5826d602045d0c3df8eb5ef0a9 sio:SIO_000628 miriam-gene:249, lld:C0268412; a sio:SIO_001122 . } dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_provenance { dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_assertion dct:description "[Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:11438998; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP1500.RAU70hQRFJjpORmp8vH62NHnANRNKKMTETmInucC9GVTA130_publicationInfo { this: dct:created "2016-05-13T12:41:50+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct: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" . }