@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k
> .
@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#
> .
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_head
{
this:
np:hasAssertion
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_assertion
;
np:hasProvenance
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_provenance
;
np:hasPublicationInfo
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;
a
np:Nanopublication
.
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_assertion
a
np:Assertion
.
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_provenance
a
np:Provenance
.
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_assertion
{
miriam-gene:10982
a
ncit:C16612
.
lld:C0220701
a
ncit:C7057
.
dgn-gda:DGNceb9b71ae3e93a816046e0839ee48fc3
sio:SIO_000628
miriam-gene:10982
,
lld:C0220701
;
a
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.
}
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_provenance
{
dgn-np:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_assertion
dcterms:description
"[To survey patients with dominant retinitis pigmentosa (RP) for mutations in the RP1 gene to determine the spectrum of dominant mutations in this gene, to estimate the proportion of dominant RP caused by this gene, and to determine whether the clinical features of patients with RP1 mutations differ from features of those with rhodopsin mutations.]. 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:11527933
;
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:NP606456.RANuTY3dpO5FJkrCggvZp6zNzc0jwj7TcwVZmRD3q4d0k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:04+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" .
}