@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_head
{
this:
np:hasAssertion
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_assertion
;
np:hasProvenance
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_assertion
a
np:Assertion
.
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_provenance
a
np:Provenance
.
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_assertion
{
miriam-gene:26160
a
ncit:C16612
.
lld:C0854723
a
ncit:C7057
.
dgn-gda:DGNb051b1c7038018a5b945bdcece68e353
sio:SIO_000628
miriam-gene:26160
,
lld:C0854723
;
a
sio:SIO_001121
.
}
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_provenance
{
dgn-np:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_assertion
dcterms:description
"[These findings expand the spectrum of disease associated with mutations in IFT172 and suggest that mutations in genes originally reported to be associated with syndromic ciliopathies should also be considered in subjects with non-syndromic retinal dystrophy.]. 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:25168386
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1214653.RAg9Q2kUKH6wREjPX2faDGTDDKZnzZoKQEjzHkQxyMAS0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:56+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}