@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
> .
@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:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_head
{
this:
np:hasAssertion
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
;
np:hasProvenance
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_provenance
;
np:hasPublicationInfo
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
a
np:Assertion
.
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_provenance
a
np:Provenance
.
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
{
miriam-gene:6607
a
ncit:C16612
.
lld:C0270764
a
ncit:C7057
.
dgn-gda:DGNf5f0bb70ab580aaa0944498407e780da
sio:SIO_000628
miriam-gene:6607
,
lld:C0270764
;
a
sio:SIO_001121
.
}
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_provenance
{
dgn-np:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
dcterms:description
"[A rare variant with associated myoclonic epilepsy and lower motor neuron disease had been previously described in three families before the SMN gene, responsible for the common form of SMA, was isolated.]. 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:12571787
;
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:NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:00+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" .
}