@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:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_head { this: np:hasAssertion dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_assertion; np:hasProvenance dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_provenance; np:hasPublicationInfo dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_publicationInfo; a np:Nanopublication . dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_assertion a np:Assertion . dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_provenance a np:Provenance . dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_publicationInfo a np:PublicationInfo . } dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_assertion { miriam-gene:4948 a ncit:C16612 . lld:C0268495 a ncit:C7057 . dgn-gda:DGNeed7fd3c8ad3bd94e8c30a1cc991196f sio:SIO_000628 miriam-gene:4948, lld:C0268495; a sio:SIO_001121 . } dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_provenance { dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_assertion dcterms:description "[The discovery of this novel OCA2 variant adds to the body of evidence on the detrimental effects of OCA2 gene mutations on pigmentation, supports existing GWAS data on the relevance of the OCA2 gene in melanoma predisposition, and may ultimately assist in the development of targeted molecular therapies in the treatment of OCA and melanoma.]. 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:23103111; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_publicationInfo { this: dcterms:created "2015-08-25T14:43:39+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }