@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc> .
@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/v3.0.0/void/> .
dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_head {
   this: np:hasAssertion dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_assertion ;
    np:hasProvenance dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_provenance ;
    np:hasPublicationInfo dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_assertion a np:Assertion .
  dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_provenance a np:Provenance .
  dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_assertion {
   miriam-gene:4338 a ncit:C16612 .
  lld:C0268119 a ncit:C7057 .
  dgn-gda:DGN8a22016f9e07437d2ae1d4cbfad073ba sio:SIO_000628 miriam-gene:4338 , lld:C0268119 ;
    a sio:SIO_001122 .
}
dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_provenance {
   dgn-np:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_assertion dcterms:description "[Sequencing of the MOCS2A gene revealed heterozygosity for c.[265T&gt;C] + [266A&gt;G], diagnosed as molybdenum cofactor deficiency type B. Neonatal seizures, progressive cerebral atrophy, and low serum levels of uric acid may provide diagnostic clues in patients with cerebral palsy of undetermined cause.]. 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:22759696 ;
    prov:wasDerivedFrom dgn-void:befree-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP566760.RAqIKmt3x7X4NuCt6pd8v4OUfCG3mYNgQQR4g6eyDrDAc130_publicationInfo {
   this: dcterms:created "2015-08-25T14:43:17+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 "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}