@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE
> .
@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:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_head
{
this:
np:hasAssertion
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_assertion
;
np:hasProvenance
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_provenance
;
np:hasPublicationInfo
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_assertion
a
np:Assertion
.
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_provenance
a
np:Provenance
.
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_assertion
{
miriam-gene:8291
a
ncit:C16612
.
lld:C0151786
a
ncit:C7057
.
dgn-gda:DGNb7eb695bc3f99133df6bf69996b49db2
sio:SIO_000628
miriam-gene:8291
,
lld:C0151786
;
a
sio:SIO_001121
.
}
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_provenance
{
dgn-np:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_assertion
dcterms:description
"[In the early stages of disease these patients may clinically show only proximal lower limb-girdle muscle weakness; however, the use of muscle imaging techniques were very important, always detecting in these patients also distal lower limb muscle involvement, so that the pattern of muscle involvement found in dysferlin deficiency may not strictly conform to the definition of limb-girdle muscular dystrophy.]. 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:11166162
;
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:NP742242.RAOFUuXEygvCEGX0T0CFv-St-t9yNBy2gwXdj2fSzjkmE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:30+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" .
}