@prefix dc: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg> .
@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:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_head {
   this: np:hasAssertion dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion ;
    np:hasProvenance dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance ;
    np:hasPublicationInfo dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion a np:Assertion .
  dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance a np:Provenance .
  dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion {
   miriam-gene:249 a ncit:C16612 .
  lld:C0268413 a ncit:C7057 .
  dgn-gda:DGN1a1c17a34989e7764178d08a882f6992 sio:SIO_000628 miriam-gene:249 , lld:C0268413 ;
    a sio:SIO_001122 .
}
dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_provenance {
   dgn-np:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_assertion dc:description "[They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly to variable residual enzymatic activities allowed by missense mutations found in the human TNSALP gene.]. 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:10332035 ;
    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:NP1101.RAsjF6fh8szYLB0XxJg8WjsdTYenUGEUihsIL0EBapBHg130_publicationInfo {
   this: dc:created "2015-08-25T14:37:42+02:00"^^xsd:dateTime ;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dc:rightsHolder dgn-void:IBIGroup ;
    dc: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" .
}