@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8
> .
@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:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_head
{
this:
np:hasAssertion
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_assertion
;
np:hasProvenance
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance
;
np:hasPublicationInfo
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_assertion
a
np:Assertion
.
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance
a
np:Provenance
.
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_assertion
{
miriam-gene:2737
a
ncit:C16612
.
lld:C0265306
a
ncit:C7057
.
dgn-gda:DGN3860cf0ab39377c18491f98ea67c9a65
sio:SIO_000628
miriam-gene:2737
,
lld:C0265306
;
a
sio:SIO_001121
.
}
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_provenance
{
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_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_curated
;
sio:SIO_000772
miriam-pubmed:14608643
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP16913.RAUA-IsSmZBxfio0Bls9H8Ix9v5M_ejmuWabASKK9fva8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:06+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" .
}