@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0
> .
@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:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_head
{
this:
np:hasAssertion
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_assertion
;
np:hasProvenance
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_provenance
;
np:hasPublicationInfo
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_assertion
a
np:Assertion
.
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_provenance
a
np:Provenance
.
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_assertion
{
miriam-gene:6010
a
ncit:C16612
.
lld:C0339525
a
ncit:C7057
.
dgn-gda:DGN8c802c318e7acf3736ce35ab0644da46
sio:SIO_000628
miriam-gene:6010
,
lld:C0339525
;
a
sio:SIO_001121
.
}
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_provenance
{
dgn-np:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_assertion
dcterms:description
"[A cytosine-to-adenine transversion in codon 23 of rhodopsin, the rod visual pigment gene, was reported recently by Dryja et al in 17 of 148 unrelated patients with autosomal dominant retinitis pigmentosa, but the clinical findings associated with this deletion have not been reported in detail.]. 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:1987955
;
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:NP772946.RAQosg9SmxCF9UjCPWC361WY8T5rpODrggt6i1m31T3N0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:35+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" .
}