@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4> .
@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:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_head {
  this: np:hasAssertion dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_assertion;
    np:hasProvenance dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_provenance;
    np:hasPublicationInfo dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_assertion a np:Assertion .
  
  dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_provenance a np:Provenance .
  
  dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_assertion {
  miriam-gene:3897 a ncit:C16612 .
  
  lld:C0265216 a ncit:C7057 .
  
  dgn-gda:DGN620514e8fc5855c77aaf31df74ee2728 sio:SIO_000628 miriam-gene:3897, lld:C0265216;
    a sio:SIO_001122 .
}

dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_provenance {
  dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_assertion dcterms:description
      "[This study demonstrates that FAMA allows rapid and reliable detection of mutations in the L1CAM gene and thus represents one of the most appropriate methods to provide diagnosis for accurate genetic counseling in families with HSAS, MASA, or SPG1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:9744477;
    prov:wasDerivedFrom dgn-void:uniprot-2016;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}

dgn-np:NP9873.RAvWWw-9EZqnVpFOMIw3KmI_qpy0qMBLuQJcIxnWBpQQ4130_publicationInfo {
  this: dcterms:created "2016-05-13T12:41:54+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: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" .
}