@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA
> .
@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:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_head
{
this:
np:hasAssertion
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion
;
np:hasProvenance
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion
a
np:Assertion
.
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance
a
np:Provenance
.
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion
{
miriam-gene:1387
a
ncit:C16612
.
lld:C0035372
a
ncit:C7057
.
dgn-gda:DGN4295170206ca729fd135274cf8d070b2
sio:SIO_000628
miriam-gene:1387
,
lld:C0035372
;
a
sio:SIO_001121
.
}
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_provenance
{
dgn-np:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_assertion
dcterms:description
"[Because the patients are heterozygous for the mutations, we propose that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy.]. 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:7630403
;
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:NP1315774.RA5sCPDCBuTjd2whRf2BrzIfSLWyk9wc81-HrvKYtYBQA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:42+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" .
}