@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg
> .
@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:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_head
{
this:
np:hasAssertion
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_assertion
;
np:hasProvenance
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_assertion
a
np:Assertion
.
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_provenance
a
np:Provenance
.
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGN8040a7083ea762f884305391d3857180
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001121
.
}
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_provenance
{
dgn-np:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_assertion
dcterms:description
"[We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis; none had pulmonary or pancreatic involvement.]. 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:7543567
;
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:NP1311787.RAS_IlLoEevHKUqsQruJMyWtU1tOCiOsqW-jT1hv0Fmxg130_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" .
}