@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ
> .
@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:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_head
{
this:
np:hasAssertion
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_assertion
;
np:hasProvenance
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_assertion
a
np:Assertion
.
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_provenance
a
np:Provenance
.
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_assertion
{
miriam-gene:9927
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNfc9decb5165361994070c03e4270f307
sio:SIO_000628
miriam-gene:9927
,
lld:C0007959
;
a
sio:SIO_001122
.
}
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_provenance
{
dgn-np:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_assertion
dcterms:description
"[The reduction of fusion rate by NFL(Q333P) was partly due to interference with the function of the profusion protein MFN2, which is mutated in CMT2A, functionally linking these forms of CMT.]. 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:22155564
;
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:NP945218.RAbKJbYCpDdr42455CREwTzOMeMY_MMcbPexbRL-0r5ZQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:53+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" .
}