@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo
> .
@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:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_head
{
this:
np:hasAssertion
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_assertion
;
np:hasProvenance
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_provenance
;
np:hasPublicationInfo
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_assertion
a
np:Assertion
.
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_provenance
a
np:Provenance
.
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_assertion
{
miriam-gene:4952
a
ncit:C16612
.
lld:C0878681
a
ncit:C7057
.
dgn-gda:DGN102c2e3faa15c68d2a0ab277b8ffed27
sio:SIO_000628
miriam-gene:4952
,
lld:C0878681
;
a
sio:SIO_001121
.
}
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_provenance
{
dgn-np:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_assertion
dcterms:description
"[Five novel mutations, L88X, P161HfsX167, F270S, D506N and E720D, in the OCRL1 gene, which have not previously been reported in patients with Dent's or Lowe disease, were identified among 11 patients with the classical Dent's disease phenotype.]. 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:19582483
;
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:NP470746.RAJU5aYL-5nLkZ6h9n8ob9MbboqudyZqxYTpOMk0qIDLo130_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" .
}