@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I
> .
@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:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_head
{
this:
np:hasAssertion
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_assertion
;
np:hasProvenance
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_provenance
;
np:hasPublicationInfo
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_assertion
a
np:Assertion
.
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_provenance
a
np:Provenance
.
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_assertion
{
miriam-gene:4868
a
ncit:C16612
.
lld:C0027726
a
ncit:C7057
.
dgn-gda:DGN31d85bb4a3ded3d1c1a95ebe1a0b0e5f
sio:SIO_000628
miriam-gene:4868
,
lld:C0027726
;
a
sio:SIO_001122
.
}
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_provenance
{
dgn-np:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_assertion
dcterms:description
"[Surprisingly, out of the two siblings with the homozygous novel mutation L587R in NPHS1, only one developed nephrotic syndrome before the age of 90 days, while the other one did not manifest until the age of 2 years.]. 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:20172850
;
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:NP794972.RASOkq_UrCOPE6NdLWJkLB5bOVb6Dgv6mCO0--tdZeo3I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:45+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" .
}