@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM
> .
@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:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_head
{
this:
np:hasAssertion
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_assertion
;
np:hasProvenance
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_provenance
;
np:hasPublicationInfo
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_assertion
a
np:Assertion
.
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_provenance
a
np:Provenance
.
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_assertion
{
miriam-gene:285440
a
ncit:C16612
.
lld:C1859486
a
ncit:C7057
.
dgn-gda:DGNdc31e974124cffc4f39f75f6f4870ad0
sio:SIO_000628
miriam-gene:285440
,
lld:C1859486
;
a
sio:SIO_001121
.
}
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_provenance
{
dgn-np:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_assertion
dcterms:description
"[We demonstrated that CYP4V2 protein is expressed at high levels in ocular target tissues of BCD, that the enzyme is metabolically active toward PUFAs, and that the functional deficit among patients with BCD who carry the H331P variant is most likely a consequence of the instability of the mutant protein.]. 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:22772592
;
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:NP440460.RAWfltZc8VkbIH0PkrKmHacztR-sb8GOngSwgryu2QZzM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:20+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" .
}