@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4> .
@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:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_head {
  this: np:hasAssertion dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_assertion;
    np:hasProvenance dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_provenance;
    np:hasPublicationInfo dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_assertion a np:Assertion .
  
  dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_provenance a np:Provenance .
  
  dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_assertion {
  miriam-gene:5354 a ncit:C16612 .
  
  lld:C0205711 a ncit:C7057 .
  
  dgn-gda:DGN07d17d25aef03c04af6351cdee173db5 sio:SIO_000628 miriam-gene:5354, lld:C0205711;
    a sio:SIO_001121 .
}

dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_provenance {
  dgn-np:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_assertion dcterms:description
      "[It allows us (1) to demonstrate that all PLP1 duplications previously found encompass the whole gene, (2) to establish that copy number changes in GPM6B and intragenic duplications of PLP1 are very unlikely to be involved in the etiology of UHL, and (3) to identify one partial triplication and two partial deletions of PLP1 in patients presenting with a PMD phenotype.]. 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:16416265;
    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:NP531231.RAGsUhBb1Xj9rEry9o5DsxscHZL1vnTdmshdvJX5gabf4130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:45+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" .
}