@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88
> .
@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:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_head
{
this:
np:hasAssertion
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_assertion
;
np:hasProvenance
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_provenance
;
np:hasPublicationInfo
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_assertion
a
np:Assertion
.
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_provenance
a
np:Provenance
.
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_assertion
{
miriam-gene:2147
a
ncit:C16612
.
lld:C0031069
a
ncit:C7057
.
dgn-gda:DGN9109742fc7592327ae51a9587ff02f28
sio:SIO_000628
miriam-gene:2147
,
lld:C0031069
;
a
sio:SIO_001122
.
}
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_provenance
{
dgn-np:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_assertion
dcterms:description
"[Thus, we devised a strategy that allows us to monitor the possible interference of additional mutations or SNPs at probe or stabilizer sequences. Finally, a comparative cost per sample analysis demonstrates that the accurate and reproducible FMF mutation detection assay we developed can be readily implemented in the clinical laboratory setting at reasonable expense. Hum Mutat]. 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:15146467
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP44563.RATvS4atIuWpidT7a-TG9ZFuqJpJG-imxTK_f8cA_Zj88130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:20+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" .
}