@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:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_head { this: np:hasAssertion dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_assertion; np:hasProvenance dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_provenance; np:hasPublicationInfo dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_publicationInfo; a np:Nanopublication . dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_assertion a np:Assertion . dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_provenance a np:Provenance . dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_publicationInfo a np:PublicationInfo . } dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_assertion { miriam-gene:6120 a ncit:C16612 . lld:C0162835 a ncit:C7057 . dgn-gda:DGN01fb30643ddbf3bf8c822981a3f3e635 sio:SIO_000628 miriam-gene:6120, lld:C0162835; a sio:SIO_001121 . } dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_provenance { dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_assertion dcterms:description "[lbk displays hypopigmentation of skin melanocytes and the retinal pigment epithelium (RPE), an absence of iridophore reflections, defects in internal organs (liver, intestine) as well as functional defects in vision and the innate immune system (macrophages).]. 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:18077594; 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:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_publicationInfo { this: dcterms:created "2014-10-02T12:37:00+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" . }