@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ
> .
@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/v4.0.0/void/
> .
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_head
{
this:
np:hasAssertion
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_assertion
;
np:hasProvenance
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_assertion
a
np:Assertion
.
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_provenance
a
np:Provenance
.
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_assertion
{
miriam-gene:4094
a
ncit:C16612
.
lld:C0344523
a
ncit:C7057
.
dgn-gda:DGN9871400a95ed37c43b0717a02d7dac86
sio:SIO_000628
miriam-gene:4094
,
lld:C0344523
;
a
sio:SIO_001122
.
}
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_provenance
{
dgn-np:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_assertion
dcterms:description
"[MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome).]. 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:25064449
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1205213.RAUd-BKYfr6ijPKiKmSHPgxA8veRs0ip2sYVOPWT0fxOQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:52+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}