@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_head
{
this:
np:hasAssertion
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_assertion
;
np:hasProvenance
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_provenance
;
np:hasPublicationInfo
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_assertion
a
np:Assertion
.
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_provenance
a
np:Provenance
.
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0018273
a
ncit:C7057
.
dgn-gda:DGN30f88ab255b5cf4ad750e30d4338f6bf
sio:SIO_000628
miriam-gene:6473
,
lld:C0018273
;
a
sio:SIO_001122
.
}
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_provenance
{
dgn-np:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_assertion
dcterms:description
"[This highly validated qPCR test supersedes other approaches for copy number screening of the SHOX region in terms of reliability, accuracy, and cost efficiency. In addition, another strong point is the fact that it can be easily implemented in any standard equipped molecular laboratory. Our qPCR-based test is highly recommended for molecular diagnostics of idiopathic short stature and allied disorders.]. 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:20375215
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP92371.RAqm2NFPe5mq3I0E9T7jXc040KCxVs6YDQQqW8p0nOqi4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:46+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}