@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M
> .
@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:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_head
{
this:
np:hasAssertion
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_assertion
;
np:hasProvenance
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_provenance
;
np:hasPublicationInfo
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_assertion
a
np:Assertion
.
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_provenance
a
np:Provenance
.
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_assertion
{
miriam-gene:2033
a
ncit:C16612
.
lld:C0338656
a
ncit:C7057
.
dgn-gda:DGNc7a8b709f0e220a73dc3cdf139d6725c
sio:SIO_000628
miriam-gene:2033
,
lld:C0338656
;
a
sio:SIO_001121
.
}
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_provenance
{
dgn-np:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_assertion
dcterms:description
"[We propose that individuals with EP300 mutations may exhibit a slightly different phenotype compared to individuals with CREBBP mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia.]. 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:20014264
;
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:NP888103.RAicBVLHy7y8HWyMKduA_Y-0rmPWhld4FRz7B3zVn2z8M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:05+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" .
}