@prefix dc: .
@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 np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_head {
this: np:hasAssertion dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_assertion;
np:hasProvenance dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_provenance;
np:hasPublicationInfo dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_publicationInfo;
a np:Nanopublication .
dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_assertion a np:Assertion .
dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_provenance a np:Provenance .
dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_assertion {
miriam-gene:146 a ncit:C16612 .
lld:C0019247 a ncit:C7057 .
dgn-gda:DGN85e6dbd56ff8664f8b5f50bb9ef66d6d sio:SIO_000628 miriam-gene:146, lld:C0019247;
a sio:SIO_001121 .
}
dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_provenance {
dgn-np:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_assertion dc:description
"[Mutations in the genes coding for the pro alpha 1 and pro alpha 2 chains of type I procollagen have been found in many patients with osteogenesis imperfecta (OI), a heritable disorder of connective tissue.]. 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:8456810;
prov:wasDerivedFrom dgn-void:befree-20140225;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP378850.RAAMfumw1EnwXGfx2aQaJuWB__-0F5UoQbhRfUqqWEDh8130_publicationInfo {
this: dc:created "2014-10-02T12:35:44+02:00"^^xsd:dateTime;
dc:rights ;
dc:rightsHolder dgn-void:IBIGroup;
dc: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" .
}