@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c
> .
@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/v3.0.0/void/
> .
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_head
{
this:
np:hasAssertion
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_assertion
;
np:hasProvenance
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_provenance
;
np:hasPublicationInfo
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_assertion
a
np:Assertion
.
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_provenance
a
np:Provenance
.
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_assertion
{
miriam-gene:6866
a
ncit:C16612
.
lld:C0271623
a
ncit:C7057
.
dgn-gda:DGN70b04758c26de7831c6b4c9c93c1b5bd
sio:SIO_000628
miriam-gene:6866
,
lld:C0271623
;
a
sio:SIO_001121
.
}
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_provenance
{
dgn-np:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_assertion
dcterms:description
"[The results suggest hypothalamic dysfunction as the primary cause for IHH in patients with biallelic TACR3 mutations and clinical manifestation in heterozygous females, together with the rarity of TAC3 and TACR3 mutations in patients with IHH.]. 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:20395662
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP721748.RAqksiAjPbbbwyFnaFiuPXYl2ONUiayX1Wyc6VGeFrV7c130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:55+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}