@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:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_head { this: np:hasAssertion dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_assertion; np:hasProvenance dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_provenance; np:hasPublicationInfo dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_publicationInfo; a np:Nanopublication . dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_assertion a np:Assertion . dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_provenance a np:Provenance . dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_publicationInfo a np:PublicationInfo . } dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_assertion { miriam-gene:146 a ncit:C16612 . lld:C0029434 a ncit:C7057 . dgn-gda:DGNeb18518087ce94da97efed6ce767f2a2 sio:SIO_000628 miriam-gene:146, lld:C0029434; a sio:SIO_001121 . } dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_provenance { dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_assertion dcterms:description "[In contrast to cysteine for glycine substitutions in the alpha 1(I) chain, the severity of the osteogenesis imperfecta phenotype is not directly proportional to the distance of the mutation from the amino-terminal end of the triple helix.]. 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:1990009; 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:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_publicationInfo { this: dcterms:created "2016-05-13T12:47:36+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" . }