@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI
> .
@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:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_head
{
this:
np:hasAssertion
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_assertion
;
np:hasProvenance
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_assertion
a
np:Assertion
.
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_provenance
a
np:Provenance
.
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_assertion
{
miriam-gene:157657
a
ncit:C16612
.
lld:C0854723
a
ncit:C7057
.
dgn-gda:DGN0d42fd229f23860ff3e30e50769f2d73
sio:SIO_000628
miriam-gene:157657
,
lld:C0854723
;
a
sio:SIO_001121
.
}
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_provenance
{
dgn-np:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_assertion
dcterms:description
"[In this report, we describe C8orf37 mutations that cause retinal dystrophy in two families of Pakistani origin, contributing further data on the phenotype and the spectrum of mutations in this form of retinitis pigmentosa.]. 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:25802487
;
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:NP1273470.RAAT_Vo_WwzGapQrtIgSfdEpg5G1zpAXuKMw9dBiin6kI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:23+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" .
}