@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_head {
  this: np:hasAssertion dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion;
    np:hasProvenance dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance;
    np:hasPublicationInfo dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion a np:Assertion .
  
  dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance a np:Provenance .
  
  dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion {
  miriam-gene:4864 a ncit:C16612 .
  
  lld:C3179455 a ncit:C7057 .
  
  dgn-gda:DGNd34c28e3ae7c9f2fef4a836f8ff6b757 sio:SIO_000628 miriam-gene:4864, lld:C3179455;
    a sio:SIO_001122 .
}

dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance {
  dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion dc:description
      "[The novel NPC1 mutations include 14 amino acid substitutions [R372W (c.1114C>T), P434L (c.1301C>T), C479Y (c.1436G>A), K576R (c.1727G>A), V727F (c.2179G>T), M754K (c.2261T>A), S865L (c.2594C>T), A926T (c.2776G>A), D948H (c.2842G>C), V959E (c.2876T>A), T1036K (c.3107C>A), T1066N (c.3197C>A), N1156I (c.3467A>T) and F1224L (c.3672C>G)], four stop codon [W260X (c.780G>A), S425X (c.1274C>A), C645X (c.1935T>A) and R1059X (c.3175C>T)], two donor splice-site mutations [IVS7+1G>A (g.31432G>A) and IVS21+2insG (g.51871insG)], one in-frame mutation [N961_F966delinsS (c.2882del16bpins1bp)] and five frameshift mutations [V299fsX8 (c.895insT), A558fsX11 (c.1673insG), C778fsX10 (c.2334insT), G993fsX3 (c.2973_78delG) and F1221fsX20 (c.3662delT)].]. 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:16098014;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    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-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_publicationInfo {
  this: dc:created "2014-10-02T12:32:00+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}