@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP565262.RACQz7OfxmWo0r_d-LhWUbn7JEedXDG3BceDmDqeYc-d4
> .
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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 dcterms: <
http://purl.org/dc/terms/
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP565262.RACQz7OfxmWo0r_d-LhWUbn7JEedXDG3BceDmDqeYc-d4130_assertion
;
np:hasProvenance
dgn-np:NP565262.RACQz7OfxmWo0r_d-LhWUbn7JEedXDG3BceDmDqeYc-d4130_provenance
;
np:hasPublicationInfo
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a
np:Nanopublication
.
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a
np:Assertion
.
dgn-np:NP565262.RACQz7OfxmWo0r_d-LhWUbn7JEedXDG3BceDmDqeYc-d4130_provenance
a
np:Provenance
.
dgn-np:NP565262.RACQz7OfxmWo0r_d-LhWUbn7JEedXDG3BceDmDqeYc-d4130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:2395
a
ncit:C16612
.
lld:C0849867
a
ncit:C7057
.
dgn-gda:DGN2391cf63a793eb3310162a0b9551f3e8
sio:SIO_000628
miriam-gene:2395
,
lld:C0849867
;
a
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.
}
dgn-np:NP565262.RACQz7OfxmWo0r_d-LhWUbn7JEedXDG3BceDmDqeYc-d4130_provenance
{
dgn-np:NP565262.RACQz7OfxmWo0r_d-LhWUbn7JEedXDG3BceDmDqeYc-d4130_assertion
dcterms:description
"[This chapter considers the most common inherited disorder in individuals of European ancestry (hereditary hemochromatosis), a widespread disease in sub-Saharan populations for which the genetic basis is still uncertain (African dietary iron overload), and several less frequent or rare disorders (juvenile hemochromatosis, atransferrinemia, aceruloplasminemia, hyperferritinemia with autosomal dominant congenital cataract, Friedreich's ataxia, and X-linked sideroblastic anemia with ataxia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:10774476
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP565262.RACQz7OfxmWo0r_d-LhWUbn7JEedXDG3BceDmDqeYc-d4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:40+02:00"^^
xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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;
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> , <
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> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
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> ;
pav:version
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"v2.1.0" .
}