@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE> .
@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:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_head {
  this: np:hasAssertion dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_assertion;
    np:hasProvenance dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_provenance;
    np:hasPublicationInfo dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_assertion a np:Assertion .
  
  dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_provenance a np:Provenance .
  
  dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_assertion {
  miriam-gene:58 a ncit:C16612 .
  
  lld:C0030552 a ncit:C7057 .
  
  dgn-gda:DGNe19bf021e9d63be8e1f8a22b57698a71 sio:SIO_000628 miriam-gene:58, lld:C0030552;
    a sio:SIO_001121 .
}

dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_provenance {
  dgn-np:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_assertion dcterms:description
      "[We conclude that mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy, and mutations in ACTA1 should be considered in patients with severe congenital hypotonia associated with muscle weakness and features of myofibrillar myopathy.]. 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:25913210;
    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:NP1280662.RAehw64Hqkj5kR43h2M-debhmzFYbYOy4wADT1BYRxjGE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:26+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" .
}