@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:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_head { this: np:hasAssertion dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_assertion; np:hasProvenance dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_provenance; np:hasPublicationInfo dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_publicationInfo; a np:Nanopublication . dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_assertion a np:Assertion . dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_provenance a np:Provenance . dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_publicationInfo a np:PublicationInfo . } dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_assertion { miriam-gene:7227 a ncit:C16612 . lld:C0020555 a ncit:C7057 . dgn-gda:DGN86d7b5a663c91e8194072b551645adae sio:SIO_000628 miriam-gene:7227, lld:C0020555; a sio:SIO_001123 . } dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_provenance { dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_assertion dcterms:description "[The results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in Ambras syndrome (a rare form of congenital hypertrichosis with excessive hair on the shoulders, face and ears in humans).]. 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:18713754; prov:wasDerivedFrom dgn-void:lhgdn-20090331; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_publicationInfo { this: dcterms:created "2014-10-02T12:33:21+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" . }