@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo> .
@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:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_head {
   this: np:hasAssertion dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion ;
    np:hasProvenance dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance ;
    np:hasPublicationInfo dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion a np:Assertion .
  dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance a np:Provenance .
  dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion {
   miriam-gene:374654 a ncit:C16612 .
  lld:C0796147 a ncit:C7057 .
  dgn-gda:DGNcb3958ea007ef20b2c074e47c9604f6c sio:SIO_000628 miriam-gene:374654 , lld:C0796147 ;
    a sio:SIO_001121 .
}
dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance {
   dgn-np:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion dcterms:description "[The finding of known loss of function variants in ciliopathy associated genes, AHI1, BBS2 and BBS4 in addition to KIF7 mutations provides evidence for oligogenic inheritance in ACLS and suggests that this might contribute to the phenotypic variability of KIF7-related disorders.]. 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:23142271 ;
    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:NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_publicationInfo {
   this: dcterms:created "2016-05-13T12:49:31+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" .
}