@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8
> .
@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:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_head
{
this:
np:hasAssertion
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_assertion
;
np:hasProvenance
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_provenance
;
np:hasPublicationInfo
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_assertion
a
np:Assertion
.
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_provenance
a
np:Provenance
.
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_assertion
{
miriam-gene:2033
a
ncit:C16612
.
lld:C0035934
a
ncit:C7057
.
dgn-gda:DGNc8123f8bcffaeca1ab32aa3f7d81270c
sio:SIO_000628
miriam-gene:2033
,
lld:C0035934
;
a
sio:SIO_001121
.
}
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_provenance
{
dgn-np:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_assertion
dcterms:description
"[To detect chromosomal rearrangements indicating novel positional candidate RSTS genes, we used a-CGH to study 26 patients fulfilling the diagnostic criteria for RSTS who were negative at fluorescence in situ hybridisation analyses of the CREBBP and EP300 regions, and direct sequencing analyses of the CREBBP gene.]. 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:20125191
;
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:NP688701.RA4vOU49_gFfe1wPCHNlvYqBDOxje7IOLMrKPpAOHDkL8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:58+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" .
}