http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#head http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#assertion http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#provenance http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#assertion http://rdf.disgenet.org/resource/gda/DGNbeae57cc54bdb76c9c730daa72bcd5b5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5555 http://rdf.disgenet.org/resource/gda/DGNbeae57cc54bdb76c9c730daa72bcd5b5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008533 http://rdf.disgenet.org/resource/gda/DGNbeae57cc54bdb76c9c730daa72bcd5b5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#provenance http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#assertion http://purl.org/dc/terms/description [The likelihood of a missense mutation causing hemophilia B depends on whether the residue is also conserved in the factor IX-related proteases: factor VII, factor X, and protein C. Most of the possible missense mutations in generically conserved residues (i.e., those conserved in factor IX and in all the related proteases) should cause disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1680287 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/dc/terms/created 2017-10-17T13:15:36+02:00 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP850504.RAImfwOp9Qwh-9CWJtwqf8IEv-7lkf0O651Vs0Z5fZoQ4 http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0