@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU
> .
@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:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_head
{
this:
np:hasAssertion
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_assertion
;
np:hasProvenance
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_provenance
;
np:hasPublicationInfo
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_assertion
a
np:Assertion
.
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_provenance
a
np:Provenance
.
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGN4d4509c1e7de72ae2c5468f37c90a372
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001121
.
}
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_provenance
{
dgn-np:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_assertion
dcterms:description
"[Two patients with different phenotypes (one PI, one PS) were found to be homozygous for the common delta F508 mutation of the CFTR gene, which proved the diagnosis of cystic fibrosis in their cases and allowed genetic counselling.]. 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:1749205
;
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:NP609181.RA4yiXoZiaixYgTo7e1wiwY2BIbyoLf8Y_StY2dK0xYdU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:21+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" .
}