@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs
> .
@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:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_head
{
this:
np:hasAssertion
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_assertion
;
np:hasProvenance
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_provenance
;
np:hasPublicationInfo
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_assertion
a
np:Assertion
.
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_provenance
a
np:Provenance
.
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_assertion
{
miriam-gene:8831
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN4ba2b264f2d913e596c0f334301e9b3a
sio:SIO_000628
miriam-gene:8831
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_provenance
{
dgn-np:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_assertion
dcterms:description
"[To further explore the involvement of SYNGAP1 in NSID, we sequenced its exons and intronic boundaries in 60 additional sporadic cases of NSID, including 30 patients with autism spectrum disorders (ASD) and 9 with epilepsy, and in 380 control individuals.]. 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:21237447
;
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:NP469370.RAOYSAPWf3wqIj5n8-TsRwo8rzYaJ43InNJjgvXqb49Fs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:41+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" .
}