@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4
> .
@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/v3.0.0/void/
> .
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_head
{
this:
np:hasAssertion
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_assertion
;
np:hasProvenance
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_provenance
;
np:hasPublicationInfo
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_assertion
a
np:Assertion
.
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_provenance
a
np:Provenance
.
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_assertion
{
miriam-gene:3798
a
ncit:C16612
.
lld:C0270914
a
ncit:C7057
.
dgn-gda:DGNcecdbbc9e49657d74398c788830e51bb
sio:SIO_000628
miriam-gene:3798
,
lld:C0270914
;
a
sio:SIO_001122
.
}
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_provenance
{
dgn-np:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_assertion
dcterms:description
"[The identification of mutations in CMT2 broadens the phenotypic spectrum and underlines the importance of KIF5A mutations, which involve degeneration of both the central and peripheral nervous systems and should be tested in HSP and CMT2.]. 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:25008398
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP524190.RAKDYMiIK3a8AvEwy-NlHaLevet_60-pHqsVbYisiTtB4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:50+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}