@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY
> .
@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:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_head
{
this:
np:hasAssertion
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion
;
np:hasProvenance
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_provenance
;
np:hasPublicationInfo
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion
a
np:Assertion
.
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_provenance
a
np:Provenance
.
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion
{
miriam-gene:450095
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGN322b47456216f386d95c7107a543689a
sio:SIO_000628
miriam-gene:450095
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_provenance
{
dgn-np:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_assertion
dcterms:description
"[The patient with normal vocal cord and pulmonary function had a less severe clinical course.This study shows that CMT patients with GDAP1 mutations develop severe disability due to weakness of limb muscles and that laryngeal and respiratory muscle involvement occurs late in the disease process when significant proximal upper limb weakness has developed.]. 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:18812441
;
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:NP491693.RAqcdlYqyGXDzbD9GO0ffOkLT5oYPWO975eTB91pCLNuY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:53+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" .
}