@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI
> .
@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:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_head
{
this:
np:hasAssertion
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_assertion
;
np:hasProvenance
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_provenance
;
np:hasPublicationInfo
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_assertion
a
np:Assertion
.
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_provenance
a
np:Provenance
.
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_assertion
{
miriam-gene:7827
a
ncit:C16612
.
lld:C0268713
a
ncit:C7057
.
dgn-gda:DGN031aff0b871a98559e4db64db06d4707
sio:SIO_000628
miriam-gene:7827
,
lld:C0268713
;
a
sio:SIO_001121
.
}
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_provenance
{
dgn-np:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_assertion
dcterms:description
"[The phenotypic variance of patients with congenital nephrotic syndrome with nephrin and podocin mutations resulting from triallelic mutations represents an important advance in our understanding of the effect of multiple genetic mutations on clinical disease expression.]. 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:15021196
;
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:NP608392.RAZjXSaTmZ7a3hD2WkJSg9-pdjoIUKNiPfFkYuC3NolgI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:05+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" .
}