@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:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_head { this: np:hasAssertion dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_assertion; np:hasProvenance dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_provenance; np:hasPublicationInfo dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_publicationInfo; a np:Nanopublication . dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_assertion a np:Assertion . dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_provenance a np:Provenance . dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_publicationInfo a np:PublicationInfo . } dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_assertion { miriam-gene:26258 a ncit:C16612 . lld:C0242994 a ncit:C7057 . dgn-gda:DGN8cdba21bc365ffccc99e00bfa9d092de sio:SIO_000628 miriam-gene:26258, lld:C0242994; a sio:SIO_001121 . } dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_provenance { dgn-np:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_assertion dcterms:description "[As it is known that HPS is caused by a local mutation in one of the human genes, named HPS1 to HPS8 and PLDN (HPS9), encoding subunit proteins involved in endosomal trafficking pathways, here, we report the mutation causing the siblings disease and a case-control association study of schizophrenia using polymorphisms of a gene to be screened in the mutation analysis.]. 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:23563589; 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:NP1067108.RAfR6Onb_tpQ0c-G1AVI2cSJcNqjbixPo2QQLj_i75caw130_publicationInfo { this: dcterms:created "2016-05-13T12:49:50+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" . }