@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8> .
@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:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_head {
  this: np:hasAssertion dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_assertion ;
    np:hasProvenance dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_provenance ;
    np:hasPublicationInfo dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_assertion a np:Assertion .
  dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_provenance a np:Provenance .
  dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_assertion {
  miriam-gene:4000 a ncit:C16612 .
  lld:C1883552 a ncit:C7057 .
  dgn-gda:DGNa292a5f85988214a4b206eecf5dda243 sio:SIO_000628 miriam-gene:4000 , lld:C1883552 ;
    a sio:SIO_001121 .
}
dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_provenance {
  dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_assertion dcterms:description "[Because of the survival benefit of early diagnosis and treatment, we recommend that LMNA gene sequencing be performed in all patients with undiagnosed congenital muscular dystrophy and neck extensor weakness, all patients with genetically undiagnosed LGMD, and those with suggestive clinical signs and nonspecific histologic abnormalities.]. 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:22491857 ;
    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:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_publicationInfo {
  this: dcterms:created "2014-10-02T12:41:28+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" .
}