@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_assertion
;
np:hasProvenance
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_provenance
;
np:hasPublicationInfo
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_assertion
a
np:Assertion
.
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_provenance
a
np:Provenance
.
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_assertion
{
miriam-gene:6247
a
ncit:C16612
.
lld:C0152439
a
ncit:C7057
.
dgn-gda:DGNa3de9068cec294dfc43d7c81a31507a9
sio:SIO_000628
miriam-gene:6247
,
lld:C0152439
;
a
sio:SIO_001121
.
}
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_provenance
{
dgn-np:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_assertion
dcterms:description
"[Sixty-eight XLRS males 4.5 to 55 years of age underwent genotyping, and the retinoschisis (RS1) mutations were classified as less severe (27 subjects) or more severe (41 subjects) based on the putative impact on the protein.]. 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:22039241
;
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:NP428914.RAafIeu9IzlVGQIGdg1JWeEDs-d86fFSHl9wBewFmPmzU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:14+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" .
}