@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8
> .
@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:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_head
{
this:
np:hasAssertion
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_assertion
;
np:hasProvenance
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_provenance
;
np:hasPublicationInfo
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_assertion
a
np:Assertion
.
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_provenance
a
np:Provenance
.
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_assertion
{
miriam-gene:346007
a
ncit:C16612
.
lld:C0339526
a
ncit:C7057
.
dgn-gda:DGNd2d0a48f8a9f6631ab65478622c23e29
sio:SIO_000628
miriam-gene:346007
,
lld:C0339526
;
a
sio:SIO_001121
.
}
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_provenance
{
dgn-np:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_assertion
dcterms:description
"[EYS mutation analysis in the 15 index cases, followed by genotyping of specific mutations in an additional 121 cases of inherited retinal degenerations, revealed five novel null mutations, two of which are founder mutations, in 10 Israeli and Palestinian families with autosomal recessive retinitis pigmentosa (arRP).]. 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:20375346
;
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:NP277011.RAxKBKSMprgt7E1HNNnFle72LBVxCsrOnVK6mCJ34bt_8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:36+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" .
}