@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY
> .
@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:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_head
{
this:
np:hasAssertion
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_assertion
;
np:hasProvenance
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_assertion
a
np:Assertion
.
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_provenance
a
np:Provenance
.
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_assertion
{
miriam-gene:169792
a
ncit:C16612
.
lld:C0267963
a
ncit:C7057
.
dgn-gda:DGNefacb088146250998992847daa8278c6
sio:SIO_000628
miriam-gene:169792
,
lld:C0267963
;
a
sio:SIO_001121
.
}
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_provenance
{
dgn-np:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_assertion
dcterms:description
"[We describe new presenting features in patients with GLIS3 mutations, including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency.]. 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:26259131
;
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:NP1292206.RAvEcW-n5NI9WDVoXuE6ZKj6Djfh18y_7Cso7rK5w9LzY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:31+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" .
}