@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY
> .
@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:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_head
{
this:
np:hasAssertion
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_assertion
;
np:hasProvenance
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_provenance
;
np:hasPublicationInfo
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_assertion
a
np:Assertion
.
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_provenance
a
np:Provenance
.
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_assertion
{
miriam-gene:1586
a
ncit:C16612
.
lld:C0268285
a
ncit:C7057
.
dgn-gda:DGNf21ddaacf103e2c73c1821e449b861b6
sio:SIO_000628
miriam-gene:1586
,
lld:C0268285
;
a
sio:SIO_001121
.
}
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_provenance
{
dgn-np:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_assertion
dcterms:description
"[A common mutation within the CYP17 gene that causes 17 alpha-hydroxylase deficiency, a form of congenital adrenal hyperplasia, has been found by direct sequencing of polymerase chain reaction (PCR) fragments of genomic DNA from six families residing in the Friesland region of the Netherlands.]. 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:1577471
;
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:NP344151.RA8WCuCWyAxAI6nVxyu-c6jV8_0PtUfY6uKzQ6_AY7wEY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:22+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" .
}