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http://rdf.disgenet.org/resource/nanopub/NP861634.RAWU7rB6iXpdBSr9Y9aEU070Ci7iEL3i3grwKKWnsLWsY
> .
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http://rdf.disgenet.org/resource/nanopub/NP861634.RAWU7rB6iXpdBSr9Y9aEU070Ci7iEL3i3grwKKWnsLWsY#
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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/
> .
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http://purl.org/ontology/wi/core#
> .
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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
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sub:assertion
dcterms:description
"[We assess the impact of variants in the prion protein gene (PRNP) on the risk of prion disease by analyzing 16,025 prion disease cases, 60,706 population control exomes, and 531,575 individuals genotyped by 23andMe Inc. We show that missense variants in PRNP previously reported to be pathogenic are at least 30 times more common in the population than expected on the basis of genetic prion disease prevalence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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prov:wasGeneratedBy
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dgn-void:BEFREE
pav:importedOn
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xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
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}
sub:publicationInfo
{
this:
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xsd:dateTime
;
dcterms:rights
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> , <
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> ;
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