@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A
> .
@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/v4.0.0/void/
> .
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_head
{
this:
np:hasAssertion
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_assertion
;
np:hasProvenance
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_provenance
;
np:hasPublicationInfo
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_assertion
a
np:Assertion
.
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_provenance
a
np:Provenance
.
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGN807d39ea0bc2df5a5efc110ea2f9c52c
sio:SIO_000628
miriam-gene:6473
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_provenance
{
dgn-np:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_assertion
dcterms:description
"[The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic short stature and to give an unbiased characterization of the haploinsufficiency phenotype of such children.]. 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:14557470
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP416726.RAVwBWdhYv6NBzsz7onqNPe9wstvzD6qffgisJysHXu7A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:54+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}