@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:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_head { this: np:hasAssertion dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_assertion; np:hasProvenance dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_provenance; np:hasPublicationInfo dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_publicationInfo; a np:Nanopublication . dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_assertion a np:Assertion . dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_provenance a np:Provenance . dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_publicationInfo a np:PublicationInfo . } dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_assertion { miriam-gene:7036 a ncit:C16612 . lld:C0162566 a ncit:C7057 . dgn-gda:DGNc211d04e3be806540f8f58cafccdab4d sio:SIO_000628 miriam-gene:7036, lld:C0162566; a sio:SIO_001122 . } dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_provenance { dgn-np:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_assertion dcterms:description "[By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls.]. 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:17298224; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP66691.RA_GCzEa5Gh8M06F8U9_o8RChNqi6Sj9muVcsfwjBu8go130_publicationInfo { this: dcterms:created "2014-10-02T12:32:31+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" . }