@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc> .
@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:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_head {
   this: np:hasAssertion dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_assertion ;
    np:hasProvenance dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_provenance ;
    np:hasPublicationInfo dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_assertion a np:Assertion .
  dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_provenance a np:Provenance .
  dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_assertion {
   miriam-gene:2261 a ncit:C16612 .
  lld:C0001080 a ncit:C7057 .
  dgn-gda:DGN7865417b124d65d3d6885d36d15ed231 sio:SIO_000628 miriam-gene:2261 , lld:C0001080 ;
    a sio:SIO_001122 .
}
dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_provenance {
   dgn-np:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_assertion dcterms:description "[We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.]. 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:10053006 ;
    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:NP22.RAiuO5zukIF7LxDgY1e2dd-XyrS2s86InKORRPWQE_mxc130_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 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 "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}