@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY
> .
@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:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_head
{
this:
np:hasAssertion
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_assertion
;
np:hasProvenance
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_assertion
a
np:Assertion
.
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_provenance
a
np:Provenance
.
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0403814
a
ncit:C7057
.
dgn-gda:DGN29e206ac90c8c49f6abb16ec080d800a
sio:SIO_000628
miriam-gene:1080
,
lld:C0403814
;
a
sio:SIO_001122
.
}
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_provenance
{
dgn-np:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_assertion
dcterms:description
"[The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.]. 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:23378603
;
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:NP1049872.RA8h-_IduqFBG9G2b5hYFJqhRQ7-MVY2wW35Jt3rpN2ZY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:42+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" .
}