@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8> .
@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:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_head {
  this: np:hasAssertion dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_assertion;
    np:hasProvenance dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_provenance;
    np:hasPublicationInfo dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_assertion a np:Assertion .
  
  dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_provenance a np:Provenance .
  
  dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_assertion {
  miriam-gene:55624 a ncit:C16612 .
  
  lld:C0457133 a ncit:C7057 .
  
  dgn-gda:DGNfb39583593703251b500a53f4fcff626 sio:SIO_000628 miriam-gene:55624, lld:C0457133;
    a sio:SIO_001121 .
}

dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_provenance {
  dgn-np:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_assertion dcterms:description
      "[CMDs associated with brain malformations such as MEB, WWS and FCMD are heterogenous in clinical presentation and on radiologic examination, suggesting that POMGnT1 assays of muscle biopsies should be used as a screening procedure for MEB in all CMD patients associated with brain malformations.]. 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:12849864;
    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:NP401146.RAWW40F28kSR5pIRmEE5R7tMrgqDhamg__ww6zbEID4K8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:47+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" .
}