@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0
> .
@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:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_head
{
this:
np:hasAssertion
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_assertion
;
np:hasProvenance
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_provenance
;
np:hasPublicationInfo
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_assertion
a
np:Assertion
.
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_provenance
a
np:Provenance
.
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_assertion
{
miriam-gene:85358
a
ncit:C16612
.
lld:C0795880
a
ncit:C7057
.
dgn-gda:DGNdc7d242bc94b3cd43feaa8c05382c6fd
sio:SIO_000628
miriam-gene:85358
,
lld:C0795880
;
a
sio:SIO_001121
.
}
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_provenance
{
dgn-np:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_assertion
dcterms:description
"[The finding that ProSAP2 is included in the critical region of the 22q deletion syndrome and that our proband displays all signs and symptoms of the syndrome suggests that ProSAP2 haploinsufficiency is the cause of the 22q13.3 deletion syndrome.]. 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:11431708
;
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:NP835812.RAirWC9gJqiLQEqFibfPEblTJoygNIfgnQd6y4oAiBYs0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:31+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" .
}