@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY
> .
@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:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_head
{
this:
np:hasAssertion
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion
;
np:hasProvenance
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_provenance
;
np:hasPublicationInfo
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion
a
np:Assertion
.
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_provenance
a
np:Provenance
.
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion
{
miriam-gene:57010
a
ncit:C16612
.
lld:C0339535
a
ncit:C7057
.
dgn-gda:DGN4ae659989ce906b4b6d8b3c69313be07
sio:SIO_000628
miriam-gene:57010
,
lld:C0339535
;
a
sio:SIO_001121
.
}
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_provenance
{
dgn-np:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_assertion
dcterms:description
"[This report significantly expands on the phenotype associated with calcium binding protein 4 mutations, which has so far been limited to congenital stationary night blindness, and further demonstrates how molecular data often blur the boundaries between what are believed to be clinically distinct retinal disorders.]. 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:20157620
;
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:NP793915.RArBfcRc3gVA7BJXUpL2hJPMYrMM4aOdRj-GUolgS4hyY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:45+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" .
}