@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:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_head { this: np:hasAssertion dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_assertion; np:hasProvenance dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_provenance; np:hasPublicationInfo dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_publicationInfo; a np:Nanopublication . dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_assertion a np:Assertion . dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_provenance a np:Provenance . dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_publicationInfo a np:PublicationInfo . } dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_assertion { miriam-gene:5340 a ncit:C16612 . lld:C0398621 a ncit:C7057 . dgn-gda:DGNfc06b9cd58bb277f7410a75b7aaf511e sio:SIO_000628 miriam-gene:5340, lld:C0398621; a sio:SIO_001122 . } dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_provenance { dgn-np:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_assertion dcterms:description "[Gene analysis revealed a homozygous missense mutation (Ala601-->Thr) at exon 15 of the plasminogen gene in the patient and a heterozygous mutation in his three daughters, suggesting that the patient has dysplasminogenaemia, which was reported as plasminogen Tochigi. Although it still remains controversial whether both dysplasminogenaemia and plasminogen deficiency are relevant independent thrombotic risk factors, the combination of this deficiency and APS should be considered as a strong predisposition to thrombosis in this patient.]. 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:12091052; 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:NP359209.RABx8vEu5njgefvYmLZ17XObjozGHfvv0ZVosX8gsY3J8130_publicationInfo { this: dcterms:created "2016-05-13T12:44:28+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" . }