@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE
> .
@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:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_head
{
this:
np:hasAssertion
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_assertion
;
np:hasProvenance
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_assertion
a
np:Assertion
.
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_provenance
a
np:Provenance
.
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_assertion
{
miriam-gene:102724652
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGNefcd55d6bcf61df314b61c037bfb10cc
sio:SIO_000628
miriam-gene:102724652
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_provenance
{
dgn-np:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_assertion
dcterms:description
"[The mutation observed in CRYAA in the present family highlights the phenotypic heterogeneity of the disorder in relation to the genotype, as an identical mutation has previously been reported in an American family with a different type of cataract.]. 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:16735993
;
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:NP1018538.RAsVFcctvYK8d1IZZJsTmFWMvLeDEgCS3X0J0tLBKtxaE130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:48:12+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" .
}