@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg
> .
@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:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_head
{
this:
np:hasAssertion
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_assertion
;
np:hasProvenance
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_assertion
a
np:Assertion
.
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_provenance
a
np:Provenance
.
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGNde797c33a53a48540f6579b486405a18
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001122
.
}
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_provenance
{
dgn-np:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_assertion
dcterms:description
"[Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D.]. 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:7681035
;
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:NP1317890.RAma2XhB_lnPHltebRYLnaJL8BuvIzVgtSipMduP-jukg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:43+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" .
}