@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA> .
@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/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v3.0.0/void/> .

dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_head {
  this: np:hasAssertion dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_assertion;
    np:hasProvenance dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_provenance;
    np:hasPublicationInfo dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_assertion a np:Assertion .
  
  dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_provenance a np:Provenance .
  
  dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_assertion {
  miriam-gene:5053 a ncit:C16612 .
  
  lld:C0751434 a ncit:C7057 .
  
  dgn-gda:DGN7497f7b506fc15c24370a4dc006daf85 sio:SIO_000628 miriam-gene:5053, lld:C0751434;
    a sio:SIO_001122 .
}

dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_provenance {
  dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_assertion dcterms:description
      "[To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the impact of ten PAH gene mutations identified in patients with BH(4)-responsiveness on enzyme kinetics, stability, and conformation of the protein (F55L, I65S, H170Q, P275L, A300S, S310Y, P314S, R408W, Y414C, Y417H).]. 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:18538294;
    prov:wasDerivedFrom dgn-void:uniprot-20150221;
    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-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}

dgn-np:NP647.RAM3tpdmhDZoi9OcegLGjHil3ta8esZfaJU5aNlHgImuA130_publicationInfo {
  this: dcterms:created "2015-08-25T14:37:42+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:disgenetv3.0rdf;
    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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}