@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:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_head { this: np:hasAssertion dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_assertion; np:hasProvenance dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_provenance; np:hasPublicationInfo dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_publicationInfo; a np:Nanopublication . dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_assertion a np:Assertion . dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_provenance a np:Provenance . dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_assertion { miriam-gene:1277 a ncit:C16612 . lld:C0029434 a ncit:C7057 . dgn-gda:DGNdae9450be959052123ad7c5695c51e60 sio:SIO_000628 miriam-gene:1277, lld:C0029434; a sio:SIO_001122 . } dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_provenance { dgn-np:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_assertion dcterms:description "[Students were provided with the sequence of the OI affected COL1A1 PCR product aligned with the normal COL1A1 sequence, allowing identification of the mutation, as the substitution of Arg for Gly(976) of the triple helical region.]. 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:23381775; 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:NP1050141.RA2ihFDrIT1pDMrSAA5gBDZUaKWRB3eIrcYMuWEvZYhRQ130_publicationInfo { this: dcterms:created "2016-05-13T12:49:42+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" . }