@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E
> .
@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:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_head
{
this:
np:hasAssertion
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_assertion
;
np:hasProvenance
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_provenance
;
np:hasPublicationInfo
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_assertion
a
np:Assertion
.
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_provenance
a
np:Provenance
.
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_assertion
{
miriam-gene:1261
a
ncit:C16612
.
lld:C0152200
a
ncit:C7057
.
dgn-gda:DGN7e84d4634510ddcc321cbeddfcb3cc66
sio:SIO_000628
miriam-gene:1261
,
lld:C0152200
;
a
sio:SIO_001121
.
}
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_provenance
{
dgn-np:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_assertion
dcterms:description
"[CNGA3 mutations were detected not only in patients with the complete form of achromatopsia but also in incomplete achromats with residual cone photoreceptor function and (rarely) in patients with evidence for severe progressive cone 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:11536077
;
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:NP329284.RAg2NDryY7irXVkOU5DeWtG74FxsdftceMNpe6SzH6E8E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:14+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: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" .
}