@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:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_head { this: np:hasAssertion dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_assertion; np:hasProvenance dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_provenance; np:hasPublicationInfo dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_publicationInfo; a np:Nanopublication . dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_assertion a np:Assertion . dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_provenance a np:Provenance . dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_publicationInfo a np:PublicationInfo . } dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_assertion { miriam-gene:5555 a ncit:C16612 . lld:C0584960 a ncit:C7057 . dgn-gda:DGN3dcad1377c1e5b9ad84c9a701cfefba8 sio:SIO_000628 miriam-gene:5555, lld:C0584960; a sio:SIO_001122 . } dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_provenance { dgn-np:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_assertion dcterms:description "[To assess whether certain abnormalities of the sulfated amino acid metabolism are associated with the occurrence of thromboembolic events in patients with inherited thrombophilic conditions, the levels of homocyst(e)ine, before or after methionine load, and the presence of the Ala223Val substitution in the 5,10-methylenetetrahydrofolate reductase (MTHFR) were evaluated in 119 subjects with a congenital single thrombophilic condition (type I deficiency of antithrombin n = 10, protein C n = 24, protein S n = 16; activated protein C resistance due to factor V Leiden mutation n = 69).]. 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:9409277; 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:NP1385933.RALH7so8AvNL4pKjXEztmkggjjQlWN5HkQ2PTeQFHCGuM130_publicationInfo { this: dcterms:created "2016-05-13T12:52:14+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" . }