@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA
> .
@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:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_head
{
this:
np:hasAssertion
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_assertion
;
np:hasProvenance
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_provenance
;
np:hasPublicationInfo
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_assertion
a
np:Assertion
.
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_provenance
a
np:Provenance
.
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_assertion
{
miriam-gene:8419
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGNeba4b126dae35417d0b8d69f846837a2
sio:SIO_000628
miriam-gene:8419
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_provenance
{
dgn-np:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_assertion
dcterms:description
"[A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls.]. 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:21181374
;
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:NP470974.RAngUI5fHszMQuBytjTw9n1r2YX74VfsATkrnT8Rz-GnA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:42+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" .
}