@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU> .
@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:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_head {
  this: np:hasAssertion dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_assertion;
    np:hasProvenance dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_provenance;
    np:hasPublicationInfo dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_assertion a np:Assertion .
  
  dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_provenance a np:Provenance .
  
  dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_assertion {
  miriam-gene:144501 a ncit:C16612 .
  
  lld:C0546966 a ncit:C7057 .
  
  dgn-gda:DGNccb998bb646da7139c78a7958d4d57e1 sio:SIO_000628 miriam-gene:144501, lld:C0546966;
    a sio:SIO_001121 .
}

dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_provenance {
  dgn-np:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_assertion dcterms:description
      "[Several cases of monilethrix have been linked to the type II keratin gene cluster on chromosome 12q13 and causative heterozygous mutations of a highly conserved glutamic acid residue (Glu 410 Lys and Glu 410 Asp) in the helix termination motif of the type II hair keratin hHb6 have recently been identified in monilethrix patients of two unrelated families.]. 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:9402962;
    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:NP808943.RAwrFXNX53SOPIdrXW1FxcfkycnIJFNC_JuotFaGrqQnU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:40:16+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" .
}