@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8
> .
@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:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_head
{
this:
np:hasAssertion
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_assertion
;
np:hasProvenance
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_provenance
;
np:hasPublicationInfo
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_assertion
a
np:Assertion
.
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_provenance
a
np:Provenance
.
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_assertion
{
miriam-gene:1589
a
ncit:C16612
.
lld:C0001627
a
ncit:C7057
.
dgn-gda:DGN2ead7cba59163ad2ec2405986ba8c4fd
sio:SIO_000628
miriam-gene:1589
,
lld:C0001627
;
a
sio:SIO_001121
.
}
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_provenance
{
dgn-np:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_assertion
dcterms:description
"[We underline the high prevalence of heterozygous CYP21A2 mutations in girls with PP and demonstrate the usefulness of systematic screening by synacthen testing, both to improve their future clinical management and to prevent the transmission of classical adrenal hyperplasia to future offspring.]. 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:20059433
;
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:NP785741.RAqCqin2jrODbsMy3dzGGun7VJV62Jl_P54SwBWC6_3X8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:41+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" .
}