@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o
> .
@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:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_head
{
this:
np:hasAssertion
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_assertion
;
np:hasProvenance
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_provenance
;
np:hasPublicationInfo
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_assertion
a
np:Assertion
.
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_provenance
a
np:Provenance
.
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_assertion
{
miriam-gene:4359
a
ncit:C16612
.
lld:C0027765
a
ncit:C7057
.
dgn-gda:DGNd6f11143a940a66d2035566d682808f4
sio:SIO_000628
miriam-gene:4359
,
lld:C0027765
;
a
sio:SIO_001121
.
}
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_provenance
{
dgn-np:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_assertion
dcterms:description
"[In addition to providing a biochemical marker for the differential diagnosis of CMT, the upregulation of LMW slow TnT isoforms under the distinct pathophysiology of CMT1 demonstrates an adaptation of muscle function to neurological disorders by alternative splicing modification of myofilament proteins.]. 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:18579801
;
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:NP678738.RAGjIn1XneGRNyRqAv7ijQ8jFx71qw7-PBiRg4fi0dc6o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:53+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: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" .
}