@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE
> .
@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:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_head
{
this:
np:hasAssertion
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_assertion
;
np:hasProvenance
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_provenance
;
np:hasPublicationInfo
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_assertion
a
np:Assertion
.
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_provenance
a
np:Provenance
.
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_assertion
{
miriam-gene:23607
a
ncit:C16612
.
lld:C0030552
a
ncit:C7057
.
dgn-gda:DGN2619e4580cebf75a7ca9baf386d61ce3
sio:SIO_000628
miriam-gene:23607
,
lld:C0030552
;
a
sio:SIO_001121
.
}
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_provenance
{
dgn-np:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_assertion
dcterms:description
"[We report here an Iranian patient in whom CMS was diagnosed since he presented with congenital and fluctuating bilateral symmetric ptosis, upward gaze palsy and slowly progressive muscle weakness leading to loss of ambulation.]. 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:23326516
;
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:NP854262.RAin9l1MgCNsoonpTo5xFtuCcSXDh6xGb6q7WY5YU_IXE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:42+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" .
}