@prefix orcid: <http://orcid.org/> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_head {
  this: np:hasAssertion dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion;
    np:hasProvenance dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance;
    np:hasPublicationInfo dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion a np:Assertion .
  
  dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance a np:Provenance .
  
  dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion {
  miriam-gene:1277 a ncit:C16612 .
  
  lld:C0023931 a ncit:C7057 .
  
  dgn-gda:DGNca8dffc3e46a0df8a048be8bc79d28e6 sio:SIO_000628 miriam-gene:1277, lld:C0023931;
    a sio:SIO_001122 .
}

dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_provenance {
  dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_assertion dcterms:description
      "[The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:1718984;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP1271.RApWdFpf93pt5JcO_2b50KJQjgi38p9zQayIXLKvClHXk130_publicationInfo {
  this: dcterms:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}