@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM
> .
@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:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_head
{
this:
np:hasAssertion
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_assertion
;
np:hasProvenance
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_assertion
a
np:Assertion
.
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_provenance
a
np:Provenance
.
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_assertion
{
miriam-gene:2736
a
ncit:C16612
.
lld:C0032002
a
ncit:C7057
.
dgn-gda:DGNdb54be8013c5275e20fc73d5f8702ec4
sio:SIO_000628
miriam-gene:2736
,
lld:C0032002
;
a
sio:SIO_001121
.
}
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_provenance
{
dgn-np:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_assertion
dcterms:description
"[In conclusion, a relatively high frequency of GLI2 mutations and variants were identified in patients with congenital GH deficiency without other brain defects, and most of these patients presented with combined pituitary hormone deficiency and an ectopic posterior pituitary lobe.]. 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:25878059
;
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:NP1278139.RAkWEgIOye77OzK-Hp1FaXNgx9LGV7oSbR4G7kxIriDkM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:25+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" .
}