@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8
> .
@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/v3.0.0/void/
> .
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_head
{
this:
np:hasAssertion
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_assertion
;
np:hasProvenance
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_assertion
a
np:Assertion
.
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_provenance
a
np:Provenance
.
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_assertion
{
miriam-gene:100240738
a
ncit:C16612
.
lld:C0004352
a
ncit:C7057
.
dgn-gda:DGN1cb8fdd51be2b18e5f36b8cd52e4cb4d
sio:SIO_000628
miriam-gene:100240738
,
lld:C0004352
;
a
sio:SIO_001121
.
}
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_provenance
{
dgn-np:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_assertion
dcterms:description
"[Copy number evaluations and direct DNA sequencing of GNB1L in 271 schizophrenia and 513 autism cases revealed dup22q11.2 in two families with autism and private GNB1L missense variants in conserved residues in three families (P = 0.036).]. 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:22095694
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP1013317.RAobZgpJqEf7nC5JCAvdn7An_hVYi9utqcyiv6tQ3nWH8130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:48:09+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}