@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY
> .
@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:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_head
{
this:
np:hasAssertion
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_assertion
;
np:hasProvenance
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_provenance
;
np:hasPublicationInfo
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_assertion
a
np:Assertion
.
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_provenance
a
np:Provenance
.
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_assertion
{
miriam-gene:7276
a
ncit:C16612
.
lld:C0002726
a
ncit:C7057
.
dgn-gda:DGN0b7845e9194faaa8573134a775c1b81a
sio:SIO_000628
miriam-gene:7276
,
lld:C0002726
;
a
sio:SIO_001122
.
}
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_provenance
{
dgn-np:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_assertion
dcterms:description
"[The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.]. 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:15523922
;
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:NP467319.RAC-j5myR6BO2oOPPYEzLJA9ETMQur9x9q294qQawT6HY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:16+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" .
}