@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M> .
@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:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_head {
  this: np:hasAssertion dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_assertion;
    np:hasProvenance dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_provenance;
    np:hasPublicationInfo dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_assertion a np:Assertion .
  
  dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_provenance a np:Provenance .
  
  dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_assertion {
  miriam-gene:2720 a ncit:C16612 .
  
  lld:C0018798 a ncit:C7057 .
  
  dgn-gda:DGN8289c6e01dcc83933005eccfb9179618 sio:SIO_000628 miriam-gene:2720, lld:C0018798;
    a sio:SIO_001121 .
}

dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_provenance {
  dgn-np:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_assertion dcterms:description
      "[Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A>G. In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T>C. Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein (EBP).]. 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:10737981;
    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:NP179187.RAspm5tnly-Ozv33JlqhuD1wY604AaAMLEIrkwXWBgh2M130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:37+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" .
}