@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM
> .
@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/v4.0.0/void/
> .
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_head
{
this:
np:hasAssertion
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_assertion
;
np:hasProvenance
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_provenance
;
np:hasPublicationInfo
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_assertion
a
np:Assertion
.
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_provenance
a
np:Provenance
.
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_assertion
{
miriam-gene:3676
a
ncit:C16612
.
lld:C0233715
a
ncit:C7057
.
dgn-gda:DGN6c7e33a7a75e0840caf24684cde7c088
sio:SIO_000628
miriam-gene:3676
,
lld:C0233715
;
a
sio:SIO_001121
.
}
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_provenance
{
dgn-np:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_assertion
dcterms:description
"[The critical region points to a few genes, namely NEUROD1, ZNF804A, PDE1A, and ITGA4, which are good candidates to explain the cognitive and behavioural phenotype, as well as the severe speech impairment associated with the 2q31.2q32.3 deletion.]. 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:20552675
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP819229.RAhitXS-RgN8hSPxPfgHr1y1D5k8V4uQsum-uVNx9bjyM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:56+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}