@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc
> .
@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/v3.0.0/void/
> .
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_head
{
this:
np:hasAssertion
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion
;
np:hasProvenance
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_provenance
;
np:hasPublicationInfo
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion
a
np:Assertion
.
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_provenance
a
np:Provenance
.
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion
{
miriam-gene:24
a
ncit:C16612
.
lld:C1855465
a
ncit:C7057
.
dgn-gda:DGNa105eafdb184bf75db57f813eace639b
sio:SIO_000628
miriam-gene:24
,
lld:C1855465
;
a
sio:SIO_001121
.
}
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_provenance
{
dgn-np:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_assertion
dcterms:description
"[Since thus far no STGD patients have been reported to carry two ABCR null alleles and taking into account that the RP phenotype is more severe than the STGD phenotype, we hypothesize that the intron 30 splice site mutation represents a true null allele.]. 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:9466990
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP219006.RAgzrNwGW8T8H4hyHOQWNOJcFXACLHE0YBjPhpv39hefc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:39:44+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}