@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:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_head { this: np:hasAssertion dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_assertion; np:hasProvenance dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_provenance; np:hasPublicationInfo dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_publicationInfo; a np:Nanopublication . dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_assertion a np:Assertion . dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_provenance a np:Provenance . dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_publicationInfo a np:PublicationInfo . } dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_assertion { miriam-gene:388007 a ncit:C16612 . lld:C0007361 a ncit:C7057 . dgn-gda:DGN8a271f822fbe6f74dbd565181cb25441 sio:SIO_000628 miriam-gene:388007, lld:C0007361; a sio:SIO_001121 . } dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_provenance { dgn-np:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_assertion dcterms:description "[A genome-wide SNP scan was applied and identified a homozygous c.593-1G-->A splicing mutation in SPINT2, encoding a Kunitz-type serine-protease inhibitor, in one extended kindred with syndromic CSD.]. 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:19185281; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP989554.RA4m7jELfjO0bLR5QqnMA6lQWFHVBR3BEDBtrKiLjFdyA130_publicationInfo { this: dcterms:created "2015-08-25T14:47:47+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }