@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:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_head { this: np:hasAssertion dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_assertion; np:hasProvenance dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_provenance; np:hasPublicationInfo dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_publicationInfo; a np:Nanopublication . dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_assertion a np:Assertion . dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_provenance a np:Provenance . dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_assertion { miriam-gene:5053 a ncit:C16612 . lld:C0751434 a ncit:C7057 . dgn-gda:DGN1ce6223dd0af3355a632899783cbbe02 sio:SIO_000628 miriam-gene:5053, lld:C0751434; a sio:SIO_001121 . } dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_provenance { dgn-np:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_assertion dcterms:description "[The aim of this study was to characterize the phenylketonuria (PKU) alleles in the Spanish population, by both identifying the causative mutations and analyzing the RFLP haplotypes and the VNTR and short-tandem-repeat alleles associated with the phenylalanine hydroxylase (PAH) 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:8981952; 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:NP1365016.RAjR4rUW6n-Bz92Ml3_rI-ig_Ugq3m08H-P2TsYSOAsr8130_publicationInfo { this: dcterms:created "2016-05-13T12:52:04+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" . }