@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo> .
@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 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/v3.0.0/void/> .
dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_head {
   this: np:hasAssertion dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_assertion ;
    np:hasProvenance dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_provenance ;
    np:hasPublicationInfo dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_assertion a np:Assertion .
  dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_provenance a np:Provenance .
  dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_assertion {
   miriam-gene:3689 a ncit:C16612 .
  lld:C0398738 a ncit:C7057 .
  dgn-gda:DGN324798fc4b3951ff493550b3ca6cc9f0 sio:SIO_000628 miriam-gene:3689 , lld:C0398738 ;
    a sio:SIO_001122 .
}
dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_provenance {
   dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_assertion dcterms:description "[This study disclosed a novel point mutation Asp 300 Val located in a highly conserved region (HCR) of CD18 and confirmed the heterogeneity of the mutations causing LAD-1, indicating it was quite beneficial to establish correct and early diagnosis in children with severe LAD-1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:20529581 ;
    prov:wasDerivedFrom dgn-void:uniprot-20150221 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}
dgn-np:NP1060.RAz60e7q5RvGSCfv4OLtIiSXvsYp7UPre04986Q07w_bo130_publicationInfo {
   this: dcterms:created "2015-08-25T14:37:42+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 orcid:0000-0001-5999-6269 , orcid:0000-0002-7534-7661 , orcid:0000-0002-9383-528X , orcid:0000-0003-0169-8159 , orcid:0000-0003-1244-7654 ;
    pav:createdBy orcid:0000-0003-0169-8159 ;
    pav:version "v3.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}