@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI> .
@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:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_head {
  this: np:hasAssertion dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_assertion;
    np:hasProvenance dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_provenance;
    np:hasPublicationInfo dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_assertion a np:Assertion .
  
  dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_provenance a np:Provenance .
  
  dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_assertion {
  miriam-gene:487 a ncit:C16612 .
  
  lld:C0700323 a ncit:C7057 .
  
  dgn-gda:DGN4550ba77f9443e15c0cb752be9026c63 sio:SIO_000628 miriam-gene:487, lld:C0700323;
    a sio:SIO_001121 .
}

dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_provenance {
  dgn-np:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_assertion dcterms:description
      "[One mutation occurs at the splice donor site of intron 3, while the other two mutations lead to premature stop codons, truncating SERCA1, deleting essential functional domains and raising the intriguing question: how have these Brody patients partially compensated for the functional knockout of a gene product believed to be essential for fast-twitch skeletal muscle relaxation?]. 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:8841193;
    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:NP733968.RAjpCrE3VljLtJ8nAQIott3QJmdF9kikaNLtROxTU0IvI130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:25+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" .
}