@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM
> .
@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:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_head
{
this:
np:hasAssertion
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion
;
np:hasProvenance
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance
;
np:hasPublicationInfo
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion
a
np:Assertion
.
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance
a
np:Provenance
.
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion
{
miriam-gene:4683
a
ncit:C16612
.
lld:C0520463
a
ncit:C7057
.
dgn-gda:DGN1f2eae46e9bf15b41ac01f2efe5e44cd
sio:SIO_000628
miriam-gene:4683
,
lld:C0520463
;
a
sio:SIO_001121
.
}
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance
{
dgn-np:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion
dcterms:description
"[Molecular testing on 39 patients (25 identified by NBS) with an already established diagnosis of CAH identified 11 SW patients (8 identified by NBS) whose mutations suggested further biochemical and clinical reassessment of their subtype.]. 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:21534945
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:53+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" .
}