@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco> .
@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:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_head {
  this: np:hasAssertion dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_assertion;
    np:hasProvenance dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_provenance;
    np:hasPublicationInfo dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_assertion a np:Assertion .
  
  dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_provenance a np:Provenance .
  
  dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_assertion {
  miriam-gene:3239 a ncit:C16612 .
  
  lld:C1841679 a ncit:C7057 .
  
  dgn-gda:DGN9ef842d003ebdae7292a0a7228b8e5bd sio:SIO_000628 miriam-gene:3239, lld:C1841679;
    a sio:SIO_001121 .
}

dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_provenance {
  dgn-np:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_assertion dcterms:description
      "[Similar types of mutation (plus eight alanines) have recently been found in another HFGS family and also in the human HOXD13 gene (plus seven up to plus 14 residues) where it leads to synpolydactyly (SPD), a further congenital limb malformation rarely associated with genital 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:12073020;
    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:NP358195.RAsvI-eYT5Ro2kqWIw_LUhKOQrWme-_NaWAeVXRVxmmco130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:27+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" .
}