@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I> .
@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:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_head {
  this: np:hasAssertion dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion;
    np:hasProvenance dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance;
    np:hasPublicationInfo dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion a np:Assertion .
  
  dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance a np:Provenance .
  
  dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion {
  miriam-gene:26580 a ncit:C16612 .
  
  lld:C2931276 a ncit:C7057 .
  
  dgn-gda:DGNefacfcb209843f89fd374f753f3e398d sio:SIO_000628 miriam-gene:26580, lld:C2931276;
    a sio:SIO_001121 .
}

dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_provenance {
  dgn-np:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_assertion dcterms:description
      "[We describe the first two Dutch families with BSCL2 mutations and corroborate the phenotypic variability of this gene mutation, as features compatible with Silver syndrome, variant Silver syndrome (with predominant foot rather than hand muscle involvement), distal HMN type II, or distal HMN type V were all encountered.]. 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:16427281;
    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:NP589442.RA1X_lpz17PlmzP-UARgCyAmzAXDTEyymOjNzEbRZzA3I130_publicationInfo {
  this: dcterms:created "2014-10-02T12:37:54+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" .
}