@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A
> .
@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:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_head
{
this:
np:hasAssertion
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_assertion
;
np:hasProvenance
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_provenance
;
np:hasPublicationInfo
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_assertion
a
np:Assertion
.
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_provenance
a
np:Provenance
.
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_assertion
{
miriam-gene:1419
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGN017b571fe2e101e4a6de403fdb552d03
sio:SIO_000628
miriam-gene:1419
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_provenance
{
dgn-np:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_assertion
dcterms:description
"[This study is the first to report complex heterogeneous mutations in the CRYGB gene resulting in ADCC with three distinct phenotypes (lamellar, anterior polar, and complete cataracts) in the same family.]. 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:23288985
;
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:NP403491.RA6kSx_L3KOUEjijtPcW-YPdmuKNNuwUOQIZQ6tMIDf_A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:00+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
<
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" .
}