@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:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_head { this: np:hasAssertion dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_assertion; np:hasProvenance dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_provenance; np:hasPublicationInfo dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_publicationInfo; a np:Nanopublication . dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_assertion a np:Assertion . dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_provenance a np:Provenance . dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_publicationInfo a np:PublicationInfo . } dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_assertion { miriam-gene:7299 a ncit:C16612 . lld:C1876214 a ncit:C7057 . dgn-gda:DGN59e6e8423a1afca2711fe58ad5644393 sio:SIO_000628 miriam-gene:7299, lld:C1876214; a sio:SIO_001121 . } dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_provenance { dgn-np:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_assertion dcterms:description "[The substantial reduction of SLC45A2 protein in the patient's melanocytes caused the mislocalization of tyrosinase from melanosomes to the plasma membrane and also led to the incorporation of tyrosinase into exosomes and secretion into the culture medium, explaining the hypopigmentation in OCA-4.]. 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:21677667; 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:NP272830.RATow8YDWf2UGI0hdEnRHRM-gsHSB6CjK_meenx-yYB7A130_publicationInfo { this: dcterms:created "2014-10-02T12:34:33+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" . }