@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ
> .
@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:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_head
{
this:
np:hasAssertion
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_assertion
;
np:hasProvenance
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_assertion
a
np:Assertion
.
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_provenance
a
np:Provenance
.
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_assertion
{
miriam-gene:7840
a
ncit:C16612
.
lld:C0339527
a
ncit:C7057
.
dgn-gda:DGN9124441b6493e1789e3f125397f9426c
sio:SIO_000628
miriam-gene:7840
,
lld:C0339527
;
a
sio:SIO_001121
.
}
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_provenance
{
dgn-np:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_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
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:NP216588.RAW6IXI3x4XUAR9Jat_1deydN20BPgyTLk3WmMR-JJrIQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:00+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
<
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> , <
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
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"v2.1.0" .
}