@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA> .
@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 dcterms: <http://purl.org/dc/terms/> .
@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/v4.0.0/void/> .

dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_head {
  this: np:hasAssertion dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_assertion;
    np:hasProvenance dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_provenance;
    np:hasPublicationInfo dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_assertion a np:Assertion .
  
  dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_provenance a np:Provenance .
  
  dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_assertion {
  miriam-gene:7502 a ncit:C16612 .
  
  lld:C0008626 a ncit:C7057 .
  
  dgn-gda:DGN006a8ad58e7c0639ff9166b1d2f7fa4e sio:SIO_000628 miriam-gene:7502, lld:C0008626;
    a sio:SIO_001121 .
}

dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_provenance {
  dgn-np:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_assertion dcterms:description
      "[The aim of the present study was to propose a feasible and practical molecular diagnostic tool for newborn screening by quantifying the gene dosage of the SHOX, VAMP7, XIST, UBA1, and SRY genes by quantitative polymerase chain reaction (qPCR) in individuals with a diagnosis of complete X monosomy, as well as those with TS variants, and then compare the results to controls without chromosomal abnormalities.]. 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:25535777;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1250785.RAIWXkjkhYob8uRy4BKKD9Hcps8eNf1lLSwuehyp4UkiA130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:13+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 <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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}