@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:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_head { this: np:hasAssertion dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_assertion; np:hasProvenance dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_provenance; np:hasPublicationInfo dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_publicationInfo; a np:Nanopublication . dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_assertion a np:Assertion . dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_provenance a np:Provenance . dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_publicationInfo a np:PublicationInfo . } dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_assertion { miriam-gene:6786 a ncit:C16612 . lld:C1861451 a ncit:C7057 . dgn-gda:DGNaea6bc3610753f3fef938a5d3f653bca sio:SIO_000628 miriam-gene:6786, lld:C1861451; a sio:SIO_001122 . } dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_provenance { dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_assertion dcterms:description "[Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome.]. 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:24591628; 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:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_publicationInfo { this: dcterms:created "2016-05-13T12:50:32+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" . }