@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io
> .
@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 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:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_assertion
;
np:hasProvenance
dgn-np:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_provenance
;
np:hasPublicationInfo
dgn-np:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_assertion
a
np:Assertion
.
dgn-np:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_provenance
a
np:Provenance
.
dgn-np:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_assertion
{
miriam-gene:728358
a
ncit:C16612
.
lld:C0268164
a
ncit:C7057
.
dgn-gda:DGNaae9e197ff1800cbdcf96c2b9ff55917
sio:SIO_000628
miriam-gene:728358
,
lld:C0268164
;
a
sio:SIO_001121
.
}
dgn-np:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_provenance
{
dgn-np:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_assertion
dcterms:description
"[Clinical features of the HP1 kindreds were compared with those of the new kindreds (HP2), and genetic linkage analysis, screening for mutations through DNA sequencing, and screening an unaffected population were performed.]. 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:9322498
;
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:NP719274.RAM27CSWsRzFJ99UEUXRr0xYvZGOhasDoU5TTrwX7_5Io130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:17+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: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" .
}