@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:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_head { this: np:hasAssertion dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion; np:hasProvenance dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_provenance; np:hasPublicationInfo dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_publicationInfo; a np:Nanopublication . dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion a np:Assertion . dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_provenance a np:Provenance . dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_publicationInfo a np:PublicationInfo . } dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion { miriam-gene:2157 a ncit:C16612 . lld:C0684275 a ncit:C7057 . dgn-gda:DGN6a3256be7e0b8ce55790446f11c680a5 sio:SIO_000628 miriam-gene:2157, lld:C0684275; a sio:SIO_001121 . } dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_provenance { dgn-np:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_assertion dcterms: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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:10773919; 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:NP281826.RAvTtuNY650OuCeRo7TR9z_0zA6XxeGp1NCDU0BtfiyF4130_publicationInfo { this: dcterms:created "2016-05-13T12:43:53+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" . }