@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:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_head { this: np:hasAssertion dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_assertion; np:hasProvenance dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_provenance; np:hasPublicationInfo dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_publicationInfo; a np:Nanopublication . dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_assertion a np:Assertion . dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_provenance a np:Provenance . dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_publicationInfo a np:PublicationInfo . } dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_assertion { miriam-gene:5053 a ncit:C16612 . lld:C0751434 a ncit:C7057 . dgn-gda:DGN50a6a9e02df81de5c700cf604ee4d3fd sio:SIO_000628 miriam-gene:5053, lld:C0751434; a sio:SIO_001121 . } dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_provenance { dgn-np:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_assertion dcterms:description "[Hyperphenylalaninemia (Online Mendelian Inheritance in Man database: 261600) is an autosomal recessive disorder mainly due to mutations in the gene for phenylalanine hydroxylase; the most severe form of hyperphenylalaninemia is classic phenylketonuria.]. 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:19292873; 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:NP726594.RAtWBY6bJn7mSILFwV7UvHmDvl-GehnLF42yzV0uaNnY0130_publicationInfo { this: dcterms:created "2016-05-13T12:47:14+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" . }