@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:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_head { this: np:hasAssertion dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_assertion; np:hasProvenance dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_provenance; np:hasPublicationInfo dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_publicationInfo; a np:Nanopublication . dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_assertion a np:Assertion . dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_provenance a np:Provenance . dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_publicationInfo a np:PublicationInfo . } dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_assertion { miriam-gene:1277 a ncit:C16612 . lld:C0029434 a ncit:C7057 . dgn-gda:DGN12a44255c07f6c6f76898eeed55aa0a5 sio:SIO_000628 miriam-gene:1277, lld:C0029434; a sio:SIO_001121 . } dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_provenance { dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_assertion dcterms:description "[To uncover the molecular pathogenic mechanism of congenital osteogenesis imperfecta (OI) type I, all the 103 exons of the COL1A1 (Collagen, type Ⅰ, alpha 1) and COL1A2 (Collagen, type Ⅰ, alpha 2) genes in a child with OI type Ⅰ were screened using PCR-DNA direct sequencing.]. 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:25608812; 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:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_publicationInfo { this: dcterms:created "2016-05-13T12:51:16+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" . }