@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U
> .
@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:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_head
{
this:
np:hasAssertion
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_assertion
;
np:hasProvenance
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_provenance
;
np:hasPublicationInfo
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_assertion
a
np:Assertion
.
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_provenance
a
np:Provenance
.
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_assertion
{
miriam-gene:6520
a
ncit:C16612
.
lld:C0333440
a
ncit:C7057
.
dgn-gda:DGN8d464586059d293fa4d2825b9658dd1d
sio:SIO_000628
miriam-gene:6520
,
lld:C0333440
;
a
sio:SIO_001121
.
}
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_provenance
{
dgn-np:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_assertion
dcterms:description
"[The lack of different proteins accruing, but the mutant ones at an early age of affected patients in actin filament aggregating myopathy (AFAM) and hyaline body myopathy (HBM), suggests defects in maturation of sarcomeres and failure to integrate the possible mutant proteins, sarcomeric actin and heavy chain myosin in AFAM and HBM, a disturbance of anabolic metabolism.]. 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:22172423
;
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:NP223596.RAQvqdsPoFJIHnlHjVGnVJGiXkZStx5xuOO2YxIIMxv3U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:04+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" .
}