@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw
> .
@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:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_head
{
this:
np:hasAssertion
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_assertion
;
np:hasProvenance
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_provenance
;
np:hasPublicationInfo
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_assertion
a
np:Assertion
.
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_provenance
a
np:Provenance
.
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_assertion
{
miriam-gene:89866
a
ncit:C16612
.
lld:C1848172
a
ncit:C7057
.
dgn-gda:DGNeda038d762a3d7b2977d9f01ae13e448
sio:SIO_000628
miriam-gene:89866
,
lld:C1848172
;
a
sio:SIO_001121
.
}
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_provenance
{
dgn-np:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_assertion
dcterms:description
"[Our report of patient population mutation screening for both CSNBX genes, and our exclusion of RP2 and RGPR, indicates that mutations in CACNA1F and NYX are likely to account for all CSNBX.]. 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:12552565
;
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:NP433657.RAQ6s0nTCR6-fYkaDXNl37cX0GDQDDnLz93Gi3GUsyvMw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:17+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" .
}