@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:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_head { this: np:hasAssertion dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_assertion; np:hasProvenance dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_provenance; np:hasPublicationInfo dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_publicationInfo; a np:Nanopublication . dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_assertion a np:Assertion . dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_provenance a np:Provenance . dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_publicationInfo a np:PublicationInfo . } dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_assertion { miriam-gene:462 a ncit:C16612 . lld:C0272363 a ncit:C7057 . dgn-gda:DGN67b514f2c18661024d745c6ccca56cce sio:SIO_000628 miriam-gene:462, lld:C0272363; a sio:SIO_001121 . } dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_provenance { dgn-np:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_assertion dcterms:description "[In the remaining 15 kindreds, two copies of the ATIII gene are present and appear to be grossly normal at the level of whole genome Southern blotting, suggesting that small deletions, insertions or limited nucleotide substitution(s) in the antithrombin III gene, or `trans-acting` defects at other loci involved in the processing, modification, and secretion of biologically active ATIII are responsible for the observed anticoagulant disorders.]. 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:3663935; 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:NP365357.RAWQ9Jq9srAP6T6BX_nvnqcoR2CXheLKblCSEI7Iwi9Y4130_publicationInfo { this: dcterms:created "2014-10-02T12:35:34+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" . }