@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4
> .
@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:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_head
{
this:
np:hasAssertion
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_assertion
;
np:hasProvenance
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_provenance
;
np:hasPublicationInfo
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_assertion
a
np:Assertion
.
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_provenance
a
np:Provenance
.
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_assertion
{
miriam-gene:5021
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGN9f83402ca0ab9c65038545f96187901f
sio:SIO_000628
miriam-gene:5021
,
lld:C0004352
;
a
sio:SIO_001121
.
}
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_provenance
{
dgn-np:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_assertion
dcterms:description
"[Selected genes that are present in the hemizygous state and which might be important for the phenotype of this patient as regards the congenital heart defect, autistic behavior and mental retardation (CAV3, OXTR, and SRGAP3/MEGAP, respectively) are discussed in context of the clinical features.]. 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:21082655
;
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:NP25234.RAzQecqKZVWC444YAeUv7CIvJh58faLY5ti9OVah2Kfn4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:10+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" .
}