@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw
> .
@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:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_head
{
this:
np:hasAssertion
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_assertion
;
np:hasProvenance
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_provenance
;
np:hasPublicationInfo
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_assertion
a
np:Assertion
.
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_provenance
a
np:Provenance
.
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_assertion
{
miriam-gene:26121
a
ncit:C16612
.
lld:C0339525
a
ncit:C7057
.
dgn-gda:DGN8bdf9be425a2d1c626148bf2389a057d
sio:SIO_000628
miriam-gene:26121
,
lld:C0339525
;
a
sio:SIO_001121
.
}
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_provenance
{
dgn-np:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_assertion
dcterms:description
"[To identify the mutations in the pre-mRNA processing factor 31 homolog (PRPF31) gene in Chinese families with autosomal dominant retinitis pigmentosa (adRP) and to characterize the clinical features of those patients who were found to have mutations in the PRPF31 gene.]. 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:23288994
;
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:NP240371.RATHVZJNRRFffFCSkFDQEyHqbAbL2yo5QW0gV8o7G2RLw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:14+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" .
}