@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:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_head { this: np:hasAssertion dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_assertion; np:hasProvenance dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_provenance; np:hasPublicationInfo dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_publicationInfo; a np:Nanopublication . dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_assertion a np:Assertion . dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_provenance a np:Provenance . dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_publicationInfo a np:PublicationInfo . } dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_assertion { miriam-gene:5053 a ncit:C16612 . lld:C0031485 a ncit:C7057 . dgn-gda:DGNc2ba1afa5880863038fb4137ee337ddd sio:SIO_000628 miriam-gene:5053, lld:C0031485; a sio:SIO_001121 . } dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_provenance { dgn-np:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_assertion dcterms:description "[Experimental data on a set of missense mutations of the enzyme phenylalanine hydroxylase (PAH) associated with the monogenic disease phenylketonuria (PKU) have been compared with the expected in vivo impact on protein function, obtained using SNPs3D, an in silico analysis package.]. 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:21953985; 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:NP927006.RA_axOVZkCMOGNao0ODzy6PfWrSxQNV6aRVdzULZVRfpM130_publicationInfo { this: dcterms:created "2016-05-13T12:48:45+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" . }