@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8
> .
@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#
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_assertion
a
np:Assertion
.
dgn-np:NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_provenance
a
np:Provenance
.
dgn-np:NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_publicationInfo
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{
miriam-gene:9657
a
ncit:C16612
.
lld:C0339527
a
ncit:C7057
.
dgn-gda:DGNdd4887e3341828d603ef5fc249956b3d
sio:SIO_000628
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,
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;
a
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.
}
dgn-np:NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_provenance
{
dgn-np:NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_assertion
dcterms:description
"[Therefore, in our LCA collection from Saudi Arabia, three of the 37 unassigned families carry mutations in retinal disease genes ALMS1, CNGA3, and MYO7A, which have not been previously associated with LCA, and 3 of the 37 carry novel mutations in IQCB1, which has been recently associated with LCA.]. 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:21901789
;
prov:wasDerivedFrom
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;
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 .
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dgn-np:NP625702.RA-jB7d4IdMYHTH7xIAjix23VveUh_gWm7EhZHlb-dmV8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:17+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
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> , <
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> , <
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> ;
pav:createdBy
<
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