@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E
> .
@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:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_head
{
this:
np:hasAssertion
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_assertion
;
np:hasProvenance
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_provenance
;
np:hasPublicationInfo
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_assertion
a
np:Assertion
.
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_provenance
a
np:Provenance
.
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGN2a67e1495f9580dc6a6de22dd58483b0
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001121
.
}
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_provenance
{
dgn-np:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_assertion
dcterms:description
"[Most cases of cystic fibrosis are caused by mutations that interfere with the biosynthetic folding of the cystic fibrosis transmembrane conductance regulator (CFTR), leading to the rapid degradation of CFTR molecules that have not matured beyond the endoplasmic reticulum (ER).]. 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:7553863
;
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:NP1312328.RAMJ0JCGgC_r-Kl3GflihMP2-8PGrTvaZtHrwjfzbuj2E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:40+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" .
}