@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_assertion
;
np:hasProvenance
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_provenance
;
np:hasPublicationInfo
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_assertion
a
np:Assertion
.
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_provenance
a
np:Provenance
.
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_assertion
{
miriam-gene:3492
a
ncit:C16612
.
lld:C0599750
a
ncit:C7057
.
dgn-gda:DGN81812e9383b09e53e8cf261d29fdf3a4
sio:SIO_000628
miriam-gene:3492
,
lld:C0599750
;
a
sio:SIO_001121
.
}
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_provenance
{
dgn-np:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_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:NP400054.RA6CK668ep0Hm8K1ZJRkd3_HecI8mG3DPnjtf9w8xKiHY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:58+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" .
}