@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo
> .
@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:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_head
{
this:
np:hasAssertion
dgn-np:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_assertion
a
np:Assertion
.
dgn-np:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_provenance
a
np:Provenance
.
dgn-np:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_assertion
{
miriam-gene:10993
a
ncit:C16612
.
lld:C0013338
a
ncit:C7057
.
dgn-gda:DGNb80a91ac7189f2fd2f82151e3b766777
sio:SIO_000628
miriam-gene:10993
,
lld:C0013338
;
a
sio:SIO_001122
.
}
dgn-np:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_provenance
{
dgn-np:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_assertion
dcterms:description
"[We describe two male siblings with IGHD due to a homozygous missense GHRHR mutation who, because they were started on hGH therapy at different ages, presented with different height SDS at the onset of puberty and therefore had different predicted target heights.]. 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:15237716
;
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:NP858015.RAilqOFuxDPy24tIoEy0YG-5lmJN2K2QXBIZDiLdt2ufo130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:21+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" .
}