@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:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_head { this: np:hasAssertion dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_assertion; np:hasProvenance dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_provenance; np:hasPublicationInfo dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_publicationInfo; a np:Nanopublication . dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_assertion a np:Assertion . dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_provenance a np:Provenance . dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_publicationInfo a np:PublicationInfo . } dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_assertion { miriam-gene:55151 a ncit:C16612 . lld:C0029434 a ncit:C7057 . dgn-gda:DGN5fb419a127c319851b4d3fec8e92c1f7 sio:SIO_000628 miriam-gene:55151, lld:C0029434; a sio:SIO_001121 . } dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_provenance { dgn-np:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_assertion dcterms:description "[After 2006, mutations were identified in the CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, WNT1, BMP1, and TMEM38B genes, associated with recessive OI and mutation in the IFITM5 gene associated with dominant OI.]. 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:25046257; 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:NP1203564.RA8W471sWSHW7FXdTwGzWzoMdSkpgyuIhcHJ7i10YZh2k130_publicationInfo { this: dcterms:created "2016-05-13T12:50:51+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" . }