@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_head
{
this:
np:hasAssertion
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_assertion
;
np:hasProvenance
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_provenance
;
np:hasPublicationInfo
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_assertion
a
np:Assertion
.
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_provenance
a
np:Provenance
.
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_assertion
{
miriam-gene:450095
a
ncit:C16612
.
lld:C0233715
a
ncit:C7057
.
dgn-gda:DGN8c94db2cd069f96d3d4c55f40c55d58d
sio:SIO_000628
miriam-gene:450095
,
lld:C0233715
;
a
sio:SIO_001121
.
}
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_provenance
{
dgn-np:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_assertion
dcterms:description
"[We studied the pulmonary function and ventilatory response to carbon dioxide and hypoxia in three sisters aged 16, 13, and 10 years who presented with droopy eyelids, external ophthalmoplegia, hearing loss, speech difficulty, and truncal muscular weakness.]. 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:3930159
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1304191.RAIcMrgCjAXWJIK68mJpIsnTdijeo4QX3D8fUS97LioBs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:37+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}