http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_head http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_assertion http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_provenance http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_assertion http://identifiers.org/ncbigene/5340 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1968804 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN39589348982610769a39824d571554c6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5340 http://rdf.disgenet.org/resource/gda/DGN39589348982610769a39824d571554c6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1968804 http://rdf.disgenet.org/resource/gda/DGN39589348982610769a39824d571554c6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_provenance http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12091052 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/dc/terms/created 2015-08-25T14:43:57+02:00 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP630653.RARVsono4cqrcJ2Rm3GLFyq_h0WCCBWMiQYC_l_1QmoUA http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0