@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I
> .
@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:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_head
{
this:
np:hasAssertion
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_assertion
;
np:hasProvenance
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_provenance
;
np:hasPublicationInfo
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_assertion
a
np:Assertion
.
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_provenance
a
np:Provenance
.
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_assertion
{
miriam-gene:51119
a
ncit:C16612
.
lld:C0013338
a
ncit:C7057
.
dgn-gda:DGN6da053e1712799413ba08ad9f159a0a6
sio:SIO_000628
miriam-gene:51119
,
lld:C0013338
;
a
sio:SIO_001122
.
}
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_provenance
{
dgn-np:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_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:NP901660.RASbiIelidmQErK5QGp8jEk9hyb8MWLMLWRlKKmmjjw9I130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:50+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" .
}