@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o
> .
@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:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_head
{
this:
np:hasAssertion
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_assertion
;
np:hasProvenance
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_provenance
;
np:hasPublicationInfo
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_assertion
a
np:Assertion
.
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_provenance
a
np:Provenance
.
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_assertion
{
miriam-gene:23095
a
ncit:C16612
.
lld:C0151786
a
ncit:C7057
.
dgn-gda:DGNc984dea028724f88b4c5bdc5e2853b6c
sio:SIO_000628
miriam-gene:23095
,
lld:C0151786
;
a
sio:SIO_001121
.
}
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_provenance
{
dgn-np:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_assertion
dcterms:description
"[The clinical features of the CMT2A affecting the two families include similar levels of muscle weakness of the posterior and anterior tibial muscles, tendon reflexes preserved in upper extremities but reduced or absent in lower extremities, no enlargement of the peripheral nerves, and mild sensory disturbance in only 20% of affected individuals.]. 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:9409358
;
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:NP1385959.RAXDu_9tJ9pPfOGMrWTda1XMWgqEGUyUDryQaPm-WDG9o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:14+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" .
}