@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U
> .
@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:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_head
{
this:
np:hasAssertion
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_assertion
;
np:hasProvenance
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_provenance
;
np:hasPublicationInfo
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_assertion
a
np:Assertion
.
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_provenance
a
np:Provenance
.
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_assertion
{
miriam-gene:7263
a
ncit:C16612
.
lld:C0854723
a
ncit:C7057
.
dgn-gda:DGN323c302b7182c74e640e2f3efeee6025
sio:SIO_000628
miriam-gene:7263
,
lld:C0854723
;
a
sio:SIO_001121
.
}
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_provenance
{
dgn-np:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_assertion
dcterms:description
"[Because mutations in the peripherin/RDS gene have been found in retinal dystrophies involving the macula, we examined various types of macular dystrophies from southern France to characterize sequence variations that may be associated with these conditions.]. 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:9361310
;
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:NP1383572.RAHXb7hpNqgOt6touQb04xKpKK3JTaBzygjR-lU1a7r7U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:13+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" .
}