@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE
> .
@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:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_head
{
this:
np:hasAssertion
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_assertion
;
np:hasProvenance
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_provenance
;
np:hasPublicationInfo
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_assertion
a
np:Assertion
.
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_provenance
a
np:Provenance
.
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_assertion
{
miriam-gene:4952
a
ncit:C16612
.
lld:C0028860
a
ncit:C7057
.
dgn-gda:DGN4eb3ba220464fb1d5dc21d6e26712166
sio:SIO_000628
miriam-gene:4952
,
lld:C0028860
;
a
sio:SIO_001121
.
}
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_provenance
{
dgn-np:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_assertion
dcterms:description
"[Western blotting from lymphocyte samples failed to detect OCRL protein even in controls.Our findings extend the phenotypic spectrum caused by OCRL mutations and illustrate that there may be selective organ involvement in Lowe 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:22915452
;
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:NP221850.RAxMXxvqDNMRGTx1UvNgywF6dumZeXdSXEb1SBvCFaNsE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:03+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" .
}