@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag
> .
@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:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_head
{
this:
np:hasAssertion
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_assertion
;
np:hasProvenance
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_provenance
;
np:hasPublicationInfo
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_assertion
a
np:Assertion
.
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_provenance
a
np:Provenance
.
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_assertion
{
miriam-gene:26121
a
ncit:C16612
.
lld:C0035334
a
ncit:C7057
.
dgn-gda:DGN898264b49178448597f3848cfa9094c9
sio:SIO_000628
miriam-gene:26121
,
lld:C0035334
;
a
sio:SIO_001121
.
}
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_provenance
{
dgn-np:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_assertion
dcterms:description
"[This study was intended to identify mutations in PRPF3, PRPF8, and PRPF31 in 150 Spanish families affected by adRP, to measure the contribution of mutations in these genes to adRP in that population, and to correlate RP phenotype expression with mutations in pre-mRNA splicing-factor genes.]. 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:12714658
;
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:NP392280.RAMu-k6OWTugS3NfZLPLhS5Z_JWL09LFM1MuZf1w9iNag130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:43+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" .
}