@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc
> .
@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:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_head
{
this:
np:hasAssertion
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_assertion
;
np:hasProvenance
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_provenance
;
np:hasPublicationInfo
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_assertion
a
np:Assertion
.
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_provenance
a
np:Provenance
.
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_assertion
{
miriam-gene:253980
a
ncit:C16612
.
lld:C0025958
a
ncit:C7057
.
dgn-gda:DGN04c1ad7970c84779ab29abaef1953c2e
sio:SIO_000628
miriam-gene:253980
,
lld:C0025958
;
a
sio:SIO_001121
.
}
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_provenance
{
dgn-np:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_assertion
dcterms:description
"[Overexpression of each human transcript in zebrafish embryos identified KCTD13 as the sole message capable of inducing the microcephaly phenotype associated with the 16p11.2 duplication, whereas suppression of the same locus yielded the macrocephalic phenotype associated with the 16p11.2 deletion, capturing the mirror phenotypes of humans.]. 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:22596160
;
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:NP290888.RAO9MmSStGgD0UAanY69cPDTxjM6JaTYtvDe8w6HCutIc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:45+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" .
}