@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4
> .
@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:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_head
{
this:
np:hasAssertion
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_assertion
;
np:hasProvenance
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_provenance
;
np:hasPublicationInfo
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_assertion
a
np:Assertion
.
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_provenance
a
np:Provenance
.
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_assertion
{
miriam-gene:2690
a
ncit:C16612
.
lld:C0013338
a
ncit:C7057
.
dgn-gda:DGNea15efacbf13434e3ce7f9271b7ff7ac
sio:SIO_000628
miriam-gene:2690
,
lld:C0013338
;
a
sio:SIO_001123
.
}
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_provenance
{
dgn-np:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_assertion
dcterms:description
"[Clinical and laboratory investigations starting in 1958 of a group of dwarfed children resembling isolated GH deficiency but who had very high serum levels of GH led to the description of the syndrome of primary GH resistance or insensitivity (Laron syndrome) and subsequently to the discovery of its molecular defects residing in the GH receptor and leading to an inability of IGF-I generation.]. 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:15001582
;
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:NP424549.RAjkuta4RAj7qIm1G0vof10jtFwVc0HUE3jorf1Nd3OY4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:47+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" .
}