@prefix dct: . @prefix ns1: . @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 np: . @prefix dgn-gda: . @prefix dgn-void: . ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_head { this: np:hasAssertion ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_assertion; np:hasProvenance ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_provenance; np:hasPublicationInfo ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_publicationInfo; a np:Nanopublication . ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_assertion a np:Assertion . ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_provenance a np:Provenance . ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_publicationInfo a np:PublicationInfo . } ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_assertion { miriam-gene:55145 a ncit:C16612 . lld:C1414216 a ncit:C7057 . dgn-gda:DGN765d7ee4985257c342a78c883ed33fe1 sio:SIO_000628 miriam-gene:55145, lld:C1414216; a sio:SIO_001122 . } ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_provenance { ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_assertion dct:description "[High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:25385508; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } ns1:NP8053.RACISOVUCr4oQiKp68sE3ZvR0FyudgGwZycmN3qnYO5ag130_publicationInfo { this: dct:created "2016-05-13T12:41:53+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct: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" . }