@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0
> .
@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:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_head
{
this:
np:hasAssertion
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_assertion
;
np:hasProvenance
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_provenance
;
np:hasPublicationInfo
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_assertion
a
np:Assertion
.
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_provenance
a
np:Provenance
.
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_assertion
{
miriam-gene:7276
a
ncit:C16612
.
lld:C0206245
a
ncit:C7057
.
dgn-gda:DGNa4bae383046b2cf27d9cf36f96ead71d
sio:SIO_000628
miriam-gene:7276
,
lld:C0206245
;
a
sio:SIO_001122
.
}
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_provenance
{
dgn-np:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_assertion
dcterms:description
"[Among patients with familial amyloid polyneuropathy (FAP), those with transthyretin Val30Met mainly show distally predominant weakness and atrophy, whereas some FAP patients, including those with transthyretin Ser50Ile and Tyr114Cys, show muscle weakness and atrophy that is dominant proximally, simulating myopathy.]. 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:15536615
;
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:NP468260.RAvfkIhx-5bYJNyFPNnoHI4ywYR7flSmNVWFb49lCiev0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:17+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" .
}