@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0
> .
@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:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_head
{
this:
np:hasAssertion
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_assertion
;
np:hasProvenance
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_provenance
;
np:hasPublicationInfo
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_assertion
a
np:Assertion
.
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_provenance
a
np:Provenance
.
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_assertion
{
miriam-gene:9499
a
ncit:C16612
.
lld:C0026850
a
ncit:C7057
.
dgn-gda:DGN781e0db83c0c4ff82281371cbfbc9e76
sio:SIO_000628
miriam-gene:9499
,
lld:C0026850
;
a
sio:SIO_001122
.
}
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_provenance
{
dgn-np:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_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-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:NP548829.RAd-u1FkU9RZahNrkVsVVlSCfUV6a87D4x2BRqX00Kz-0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:53+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" .
}