@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU
> .
@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:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_head
{
this:
np:hasAssertion
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_assertion
;
np:hasProvenance
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_provenance
;
np:hasPublicationInfo
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_assertion
a
np:Assertion
.
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_provenance
a
np:Provenance
.
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_assertion
{
miriam-gene:2737
a
ncit:C16612
.
lld:C0265306
a
ncit:C7057
.
dgn-gda:DGNe63340e0369196cc48fbfd6f0ca0dc36
sio:SIO_000628
miriam-gene:2737
,
lld:C0265306
;
a
sio:SIO_001121
.
}
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_provenance
{
dgn-np:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_assertion
dcterms:description
"[We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes.]. 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:14608643
;
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:NP325999.RAblthv4C5jYaHFR9y5-5U8lcsjGHGCeslRizDrgOEQUU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:10+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" .
}