@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w
> .
@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:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_head
{
this:
np:hasAssertion
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_assertion
;
np:hasProvenance
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_provenance
;
np:hasPublicationInfo
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_assertion
a
np:Assertion
.
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_provenance
a
np:Provenance
.
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGN01a8b0b3f7bf9e88d7dcd872cf9ddb0c
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001121
.
}
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_provenance
{
dgn-np:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_assertion
dcterms:description
"[Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CFTR gene.]. 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:1715311
;
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:NP583200.RAMGR2D0ZoU3swdOVevCjAchOlUKqTeIw-cbJ3kUgJc5w130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:09+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" .
}