@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs
> .
@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:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_head
{
this:
np:hasAssertion
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_assertion
;
np:hasProvenance
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_provenance
;
np:hasPublicationInfo
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_assertion
a
np:Assertion
.
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_provenance
a
np:Provenance
.
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_assertion
{
miriam-gene:2736
a
ncit:C16612
.
lld:C0599750
a
ncit:C7057
.
dgn-gda:DGNda5a7213caf181cd208a67450440dc00
sio:SIO_000628
miriam-gene:2736
,
lld:C0599750
;
a
sio:SIO_001121
.
}
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_provenance
{
dgn-np:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_assertion
dcterms:description
"[We describe three novel heterozygous frameshift or nonsense GLI2 mutations, predicting truncated proteins lacking the activator domain, associated with IGHD or combined pituitary hormone deficiency and ectopic posterior pituitary lobe without HPE.]. 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:20685856
;
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:NP529255.RAeFZBYr2oFbQJ7Wyh5J8b20Z89GsMlQHL2p6Zn9vHUzs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:20+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" .
}