@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI
> .
@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:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_head
{
this:
np:hasAssertion
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion
;
np:hasProvenance
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_provenance
;
np:hasPublicationInfo
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion
a
np:Assertion
.
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_provenance
a
np:Provenance
.
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion
{
miriam-gene:351
a
ncit:C16612
.
lld:C0036572
a
ncit:C7057
.
dgn-gda:DGN2252843c25f2ddaf1f7e267e4f161d6e
sio:SIO_000628
miriam-gene:351
,
lld:C0036572
;
a
sio:SIO_001121
.
}
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_provenance
{
dgn-np:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_assertion
dcterms:description
"[The atypical clinical phenotype with long prodromal phase, autonomic failure and seizures in this new proband with the APP Thr714Ala mutation illustrates the clinical heterogeneity in families with identical pathogenic mutations.]. 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:18187157
;
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:NP374137.RAmntEjUWwXibk6iNeLmZPWwyqHQTnLWxgfPg1o19dNnI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:39+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" .
}