@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:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_head { this: np:hasAssertion dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_assertion; np:hasProvenance dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_provenance; np:hasPublicationInfo dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_publicationInfo; a np:Nanopublication . dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_assertion a np:Assertion . dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_provenance a np:Provenance . dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_publicationInfo a np:PublicationInfo . } dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_assertion { miriam-gene:5860 a ncit:C16612 . lld:C0751435 a ncit:C7057 . dgn-gda:DGN7c7da080c9af95a6ba34de21b30d7d96 sio:SIO_000628 miriam-gene:5860, lld:C0751435; a sio:SIO_001121 . } dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_provenance { dgn-np:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_assertion dcterms:description "[All patients born in Lombardy (Italy) between January 2000 and December 2004, and affected by HPA (107 patients) were classified after BH4 loading test, analysis of urinary pterins, and determination of DHPR activity in blood, and investigated for BH4-responsiveness.]. 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:16198137; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP681819.RAR8ofRwTkwCIz8Z1jgMP-e-961gFHGjC5XkYctHZbX-M130_publicationInfo { this: dcterms:created "2014-10-02T12:38:51+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms: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" . }