http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_head http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_provenance http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion http://identifiers.org/ncbigene/2157 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/C0684275 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/DGN6a3256be7e0b8ce55790446f11c680a5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2157 http://rdf.disgenet.org/resource/gda/DGN6a3256be7e0b8ce55790446f11c680a5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0684275 http://rdf.disgenet.org/resource/gda/DGN6a3256be7e0b8ce55790446f11c680a5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_provenance http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion http://purl.org/dc/terms/description [With the advent of recent advances in the molecular biology, it is possible to identify the multiple molecular defects such as point mutations, premature stop codons, deletions, and inversions etc in the FVIII gene in patients with haemophilia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10773919 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/dc/terms/created 2016-05-13T12:43:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0