@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs> .
@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:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_head {
  this: np:hasAssertion dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_assertion ;
    np:hasProvenance dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_provenance ;
    np:hasPublicationInfo dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_assertion a np:Assertion .
  dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_provenance a np:Provenance .
  dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_assertion {
  miriam-gene:6607 a ncit:C16612 .
  lld:C0026847 a ncit:C7057 .
  dgn-gda:DGNd7d1c32acd2e963ebf0b93acb5d8296d sio:SIO_000628 miriam-gene:6607 , lld:C0026847 ;
    a sio:SIO_001121 .
}
dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_provenance {
  dgn-np:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_assertion dcterms:description "[For the phenotypes of patients from different generations within the same family are obviously different, the results of a genotype-phenotype analysis may be more convincing, which strongly support the hypothesis that SMN2 is an important modifier for SMA, and SMN2 copy number should be considered in the prenatal diagnosis situation.]. 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:22884440 ;
    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:NP1004410.RAJMe9pLvhhFa115ZptfcMeWkbT0NTFOvoLbLIdyo_aWs130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:21+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" .
}