@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg
> .
@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:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_head
{
this:
np:hasAssertion
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion
;
np:hasProvenance
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance
;
np:hasPublicationInfo
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion
a
np:Assertion
.
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance
a
np:Provenance
.
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion
{
miriam-gene:1415
a
ncit:C16612
.
lld:C0009691
a
ncit:C7057
.
dgn-gda:DGN6e23d7748805eb8897b03b1edcec70cc
sio:SIO_000628
miriam-gene:1415
,
lld:C0009691
;
a
sio:SIO_001122
.
}
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_provenance
{
dgn-np:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_assertion
dcterms:description
"[Our finding expands the spectrum of cataract phenotypes caused by the Q155X mutation of CRYBB2, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the congenital cataract formation in different ethnic backgrounds.]. 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:16179907
;
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:NP328414.RABYp2XEc54UINE0wx4tq7o1OwNvTatpBTqwYne7tdrvg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:49+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" .
}