@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE
> .
@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:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_head
{
this:
np:hasAssertion
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_assertion
;
np:hasProvenance
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_provenance
;
np:hasPublicationInfo
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_assertion
a
np:Assertion
.
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_provenance
a
np:Provenance
.
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_assertion
{
miriam-gene:7276
a
ncit:C16612
.
lld:C0002726
a
ncit:C7057
.
dgn-gda:DGN47b52260a91703689a831f85a4625f3e
sio:SIO_000628
miriam-gene:7276
,
lld:C0002726
;
a
sio:SIO_001121
.
}
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_provenance
{
dgn-np:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_assertion
dcterms:description
"[The highly amyloidogenic human TTR variant in which leucine at position 55 is replaced by proline (L55P TTR) is responsible for aggressive fatal amyloidosis with peripheral and autonomic neuropathy, cardiomyopathy and nephropathy.]. 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:17701470
;
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:NP200215.RAEGJX3279z3egPpbkTzPvNR5PPBIu3xBUN5amy9l34EE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:50+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" .
}