@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08
> .
@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/v3.0.0/void/
> .
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_head
{
this:
np:hasAssertion
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_assertion
;
np:hasProvenance
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_provenance
;
np:hasPublicationInfo
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_assertion
a
np:Assertion
.
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_provenance
a
np:Provenance
.
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_assertion
{
miriam-gene:1406
a
ncit:C16612
.
lld:C0035334
a
ncit:C7057
.
dgn-gda:DGN8c08f5286f7d1fe2e884f224094f381e
sio:SIO_000628
miriam-gene:1406
,
lld:C0035334
;
a
sio:SIO_001122
.
}
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_provenance
{
dgn-np:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_assertion
dcterms:description
"[TIMP3 novel variants were found in two SFD patients, PRPH2 variants in 14 PD patients, ABCA4 variants in four PD patients, and p.Arg838His GUCY2D mutation in six patients diagnosed with dominant CRD; one patient additionally had a CRX VUS.]. 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:25082885
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP328070.RAUYrZFG8MdYGgocnH3PnYx_-VkNtaI7nhC67WBGM2b08130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:49+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}