@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE
> .
@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:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_head
{
this:
np:hasAssertion
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_assertion
;
np:hasProvenance
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_provenance
;
np:hasPublicationInfo
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_assertion
a
np:Assertion
.
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_provenance
a
np:Provenance
.
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_assertion
{
miriam-gene:8291
a
ncit:C16612
.
lld:C0686353
a
ncit:C7057
.
dgn-gda:DGNe4b438070e85aeec72696d1e3cbd05f0
sio:SIO_000628
miriam-gene:8291
,
lld:C0686353
;
a
sio:SIO_001121
.
}
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_provenance
{
dgn-np:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_assertion
dcterms:description
"[Considering that protein-based assays may yield false negative test results and that dysferlin aggregation may be present in other LGMDs, mutational screening is necessary for specific diagnosis in primary dysferlinopathy patients exhibiting this phenotype.]. 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:23519732
;
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:NP172575.RAakkoxv_31sOJ6CWaIe5BBjw6lFO3y6Yua9HIrE92wwE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:33+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" .
}