@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw
> .
@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:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_head
{
this:
np:hasAssertion
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_assertion
;
np:hasProvenance
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_provenance
;
np:hasPublicationInfo
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_assertion
a
np:Assertion
.
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_provenance
a
np:Provenance
.
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_assertion
{
miriam-gene:1299
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN0fdcf62a3d2f455a8d8ae42a068ff7a7
sio:SIO_000628
miriam-gene:1299
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_provenance
{
dgn-np:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_assertion
dcterms:description
"[Deletion or duplication of one copy of the human 16p11.2 interval is tightly associated with impaired brain function, including autism spectrum disorders (ASDs), intellectual disability disorder (IDD) and other phenotypes, indicating the importance of gene dosage in this copy number variant region (CNV).]. 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:22566537
;
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:NP523043.RAglfq2a-kbFPWLwla1yLHzGAW56-tHN-8x5_mvPzXtjw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:11+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" .
}