@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk
> .
@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:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_head
{
this:
np:hasAssertion
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_assertion
;
np:hasProvenance
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_provenance
;
np:hasPublicationInfo
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_assertion
a
np:Assertion
.
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_provenance
a
np:Provenance
.
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_assertion
{
miriam-gene:7546
a
ncit:C16612
.
lld:C0010964
a
ncit:C7057
.
dgn-gda:DGN16468b1a6f920fb241a95cf50f30564f
sio:SIO_000628
miriam-gene:7546
,
lld:C0010964
;
a
sio:SIO_001121
.
}
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_provenance
{
dgn-np:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_assertion
dcterms:description
"[The occurrence of HPE and the DWM in both of these patients suggests that, in addition to ZIC2, which is important for normal development of the forebrain, there is at least one other dosage-sensitive gene in 13q22-q33 that plays an important role in brain development.]. 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:12376941
;
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:NP370832.RAF0uWKJ-3iPuX_yLoae4KVM1g3KkWUBTRFOw-b9IqkWk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:33+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" .
}