@prefix dc: . @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:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_head { this: np:hasAssertion dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_assertion; np:hasProvenance dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_provenance; np:hasPublicationInfo dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_publicationInfo; a np:Nanopublication . dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_assertion a np:Assertion . dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_provenance a np:Provenance . dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_publicationInfo a np:PublicationInfo . } dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_assertion { miriam-gene:2538 a ncit:C16612 . lld:C0017920 a ncit:C7057 . dgn-gda:DGN29f038d66792d1a91c5abf0431c4c96d sio:SIO_000628 miriam-gene:2538, lld:C0017920; a sio:SIO_001122 . } dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_provenance { dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_assertion dc:description "[In all GSD Ia patients we were able to identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure to identify mutations.]. 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:10094563; prov:wasDerivedFrom dgn-void:uniprot-20130724; 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-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP2458.RAGkGq5lCV0U0wSRzrKCa_fEtnPOovFyvGHu5Rl-xzNfs130_publicationInfo { this: dc:created "2014-10-02T12:31:59+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc: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" . }