@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI> .
@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/v4.0.0/void/> .
dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_head {
   this: np:hasAssertion dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion ;
    np:hasProvenance dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance ;
    np:hasPublicationInfo dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion a np:Assertion .
  dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance a np:Provenance .
  dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion {
   miriam-gene:249 a ncit:C16612 .
  lld:C0268413 a ncit:C7057 .
  dgn-gda:DGNfaf953b5e0e6b4558d8f86b19e80c53a sio:SIO_000628 miriam-gene:249 , lld:C0268413 ;
    a sio:SIO_001122 .
}
dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance {
   dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion dcterms:description "[Fifteen new mutations (-195C&gt;T, L-12X, 298-2A&gt;G, T117N, A159T, R229S, 997+2T&gt;A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.]. 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:10679946 ;
    prov:wasDerivedFrom dgn-void:uniprot-2016 ;
    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-2016 pav:importedOn "2016-01-25"^^xsd:date .
}
dgn-np:NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_publicationInfo {
   this: dcterms:created "2016-05-13T12:41:50+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" .
}