@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA
> .
@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#
> .
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_head
{
this:
np:hasAssertion
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_assertion
;
np:hasProvenance
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_provenance
;
np:hasPublicationInfo
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_assertion
a
np:Assertion
.
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_provenance
a
np:Provenance
.
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_assertion
{
miriam-gene:6103
a
ncit:C16612
.
lld:C0042798
a
ncit:C7057
.
dgn-gda:DGN1e044274500f35023b189b54389f337d
sio:SIO_000628
miriam-gene:6103
,
lld:C0042798
;
a
sio:SIO_001121
.
}
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_provenance
{
dgn-np:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_assertion
dcterms:description
"[Interestingly, about 30% of male sporadic cases and 30% of male sibships of RP carried RP2 or RPGR mutations, confirming the pertinence of the genetic screening of XLRP genes in male patients affected with RP commencing in the first decade and leading to profound visual impairment before the age of 30 years.]. 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:16969763
;
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:NP162080.RAJgKqNvz0HYnU-vyS8XGHXZBZ8mHGlA3kLrcRpph_qbA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:27+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" .
}