@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_head
{
this:
np:hasAssertion
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion
;
np:hasProvenance
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_provenance
;
np:hasPublicationInfo
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion
a
np:Assertion
.
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_provenance
a
np:Provenance
.
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion
{
miriam-gene:11081
a
ncit:C16612
.
lld:C1857574
a
ncit:C7057
.
dgn-gda:DGNcb3b62dd1ec4dc7a6de806afb9d877b0
sio:SIO_000628
miriam-gene:11081
,
lld:C1857574
;
a
sio:SIO_001121
.
}
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_provenance
{
dgn-np:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion
dcterms:description
"[Although missense and nonsense mutations in KERA are associated with CNA2, we did not identify any of the previously described mutations or novel mutations that segregated with the disease phenotype in a family with CNA1.]. 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:17558846
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:40+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}