@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:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_head { this: np:hasAssertion dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_assertion; np:hasProvenance dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_provenance; np:hasPublicationInfo dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_publicationInfo; a np:Nanopublication . dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_assertion a np:Assertion . dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_provenance a np:Provenance . dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_publicationInfo a np:PublicationInfo . } dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_assertion { miriam-gene:1351 a ncit:C16612 . lld:C0600433 a ncit:C7057 . dgn-gda:DGNa23c4aeeaf3fb1181aac46e8fd1ae597 sio:SIO_000628 miriam-gene:1351, lld:C0600433; a sio:SIO_001121 . } dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_provenance { dgn-np:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_assertion dcterms:description "[All 11 cases had one or more familial thrombophilic coagulation disorder including one heterozygous for the G1691A factor V Leiden mutation, two with low free protein S, four with high factor VIII, three with resistance to activated protein C, three homozygous for the C677T methylenetetrahydrofolate reductase (MTHFR) mutation, two compound C677T-A1298C MTHFR heterozygotes, and three with hypofibrinolytic 4G4G homozygosity for the PAI-1 gene.]. 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:16015408; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP793431.RAwe_3WHM4MPm_WLcoyTDIMFPW7kMSN5HukF_xuZ8yc1Y130_publicationInfo { this: dcterms:created "2014-10-02T12:40:07+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" . }