@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU
> .
@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/v3.0.0/void/
> .
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_head
{
this:
np:hasAssertion
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_assertion
;
np:hasProvenance
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_provenance
;
np:hasPublicationInfo
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_assertion
a
np:Assertion
.
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_provenance
a
np:Provenance
.
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_assertion
{
miriam-gene:25794
a
ncit:C16612
.
lld:C0035334
a
ncit:C7057
.
dgn-gda:DGN2b1d79649910305772b2436d390759c9
sio:SIO_000628
miriam-gene:25794
,
lld:C0035334
;
a
sio:SIO_001122
.
}
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_provenance
{
dgn-np:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_assertion
dcterms:description
"[Denaturing gradient gel electrophoresis and direct genomic sequencing were used to evaluate the complete coding region and flanking intronic sequences of the FSCN2 gene for mutations in 150 unrelated adRP and 15 adMD index patients, and in 50 sporadic cases of retinitis pigmentosa, together with 50 controls.]. 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:16280978
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP51999.RATMtd3SeKQAH9P79FMQ-bbaxT1YpvBBT8e_N0vjbZnwU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:08+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}