@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_head {
  this: np:hasAssertion dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_assertion;
    np:hasProvenance dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_provenance;
    np:hasPublicationInfo dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_assertion a np:Assertion .
  
  dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_provenance a np:Provenance .
  
  dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_assertion {
  miriam-gene:5741 a ncit:C16612 .
  
  lld:C3493776 a ncit:C7057 .
  
  dgn-gda:DGN541a9230e2db53730a5f14046719dcfd sio:SIO_000628 miriam-gene:5741, lld:C3493776;
    a sio:SIO_001121 .
}

dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_provenance {
  dgn-np:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_assertion dcterms:description
      "[This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously.]. 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:21274302;
    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:NP661376.RA0mX8n42fwwAzJuvLnfLpz1_U9hTbnRX66mgrJrZ2afo130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:39+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 <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}