@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A
> .
@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:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_head
{
this:
np:hasAssertion
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion
;
np:hasProvenance
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance
;
np:hasPublicationInfo
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion
a
np:Assertion
.
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance
a
np:Provenance
.
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion
{
miriam-gene:9499
a
ncit:C16612
.
lld:C0026850
a
ncit:C7057
.
dgn-gda:DGN80034e337d85056637e1558594df3dbc
sio:SIO_000628
miriam-gene:9499
,
lld:C0026850
;
a
sio:SIO_001121
.
}
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_provenance
{
dgn-np:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_assertion
dcterms:description
"[Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies.]. 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:16684602
;
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:NP549430.RAyxSkkfugiERR-b0D2rsFmb_iwI1rGAhd73TvLkUkN-A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:31+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" .
}