@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg
> .
@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:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_head
{
this:
np:hasAssertion
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_assertion
;
np:hasProvenance
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_provenance
;
np:hasPublicationInfo
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_assertion
a
np:Assertion
.
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_provenance
a
np:Provenance
.
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_assertion
{
miriam-gene:26121
a
ncit:C16612
.
lld:C0339525
a
ncit:C7057
.
dgn-gda:DGN39d002fb567fc319c3d9397459baf8c7
sio:SIO_000628
miriam-gene:26121
,
lld:C0339525
;
a
sio:SIO_001121
.
}
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_provenance
{
dgn-np:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_assertion
dcterms:description
"[A large genomic deletion resulting in almost entire loss of PRPF31 and three additional genes identified as the cause of adRP in two Swedish families provide an additional evidence that mechanism of the disease evolvement is haploinsufficiency.]. 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:19050727
;
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:NP458532.RAQjyKO0i7ka8IE2ChR-xd6Rr5FNoEk4WA6CEeCwv6CNg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:33+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" .
}