@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo
> .
@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:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_head
{
this:
np:hasAssertion
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_assertion
;
np:hasProvenance
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_provenance
;
np:hasPublicationInfo
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_assertion
a
np:Assertion
.
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_provenance
a
np:Provenance
.
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_assertion
{
miriam-gene:9993
a
ncit:C16612
.
lld:C0006111
a
ncit:C7057
.
dgn-gda:DGNc544a07b7769d6605bf443005519d16f
sio:SIO_000628
miriam-gene:9993
,
lld:C0006111
;
a
sio:SIO_001121
.
}
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_provenance
{
dgn-np:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_assertion
dcterms:description
"[The second major finding is that there are (at least) two genes with deletion dosage sensor properties among the 16p11.2 set, and these could link this CNV to brain disorders such as ASD and IDD.]. 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:NP671443.RAkhHqvKB7jwqBxJaqqrgtMzZQsaX4IlexxB-Zsj2fAIo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:45+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" .
}