@prefix orcid: <
http://orcid.org/
> .
@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8
> .
@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 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:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_head
{
this:
np:hasAssertion
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_assertion
;
np:hasProvenance
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_provenance
;
np:hasPublicationInfo
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_assertion
a
np:Assertion
.
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_provenance
a
np:Provenance
.
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGN0032b4f921201ac210da271ab0099b16
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001122
.
}
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_provenance
{
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_assertion
dc:description
"[A cohort of 31 cystic fibrosis patients showing pancreatic sufficiency and bearing an unidentified mutation on at least one chromosome was analyzed through denaturing gradient gel electrophoresis of the whole coding region of the cystic fibrosis transmembrane conductance regulator gene, including intron-exon boundaries.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:7544319
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP8327.RAmraX4SHj8NGwwmwIChTAkoUBp1QlAHzAaOvGDh5SRV8130_publicationInfo
{
this:
dc:created
"2016-05-13T12:41:53+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}