@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP553311.RARcXJAsAgYWRMG6E4lDcSgkmexI94go1Yb0g6ZE-Lg3g> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP553311.RARcXJAsAgYWRMG6E4lDcSgkmexI94go1Yb0g6ZE-Lg3g#> .
@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 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 dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v5.0.0/void/> .

sub:head {
  this: np:hasAssertion sub:assertion;
    np:hasProvenance sub:provenance;
    np:hasPublicationInfo sub:publicationInfo;
    a np:Nanopublication .
}

sub:assertion {
  dgn-gda:DGN3950e55f9237fcb77f6df501487ce05f sio:SIO_000628 miriam-gene:3508, lld:C1858517;
    a sio:SIO_001122 .
}

sub:provenance {
  sub:assertion dcterms:description "[We report here the identification of nine novel IGHMBP2 mutations in five SMARD1 patients, including seven missense [ c.587A&gt;G (p.Gln196Arg), c.647C&gt;T (p.Pro216Leu), c.752T&gt;C (p.Leu251Pro), c.1693G&gt;A (p.Asp565Asn), c.1730T&gt;C (p.Leu577Pro), c.1807C&gt;T (p.Arg603Cys), c.1909C&gt;T (p.Arg637Cys)] and two nonsense mutations [ c.1488C&gt;A (p.Cys496X), c.2368C&gt;T (p.Arg790X)].]. 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:15108294;
    prov:wasDerivedFrom dgn-void:UNIPROT;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:UNIPROT pav:importedOn "2017-01-25"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

sub:publicationInfo {
  this: dcterms:created "2017-10-17T13:13:42+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 <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 "v5.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v5.0.0" .
}