@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4
> .
@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 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:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_head
{
this:
np:hasAssertion
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_assertion
;
np:hasProvenance
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_provenance
;
np:hasPublicationInfo
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_assertion
a
np:Assertion
.
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_provenance
a
np:Provenance
.
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_assertion
{
miriam-gene:9587
a
ncit:C16612
.
lld:C0935572
a
ncit:C7057
.
dgn-gda:DGN7bc6e7895934fcf73c2ca9b85faae708
sio:SIO_000628
miriam-gene:9587
,
lld:C0935572
;
a
sio:SIO_001121
.
}
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_provenance
{
dgn-np:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_assertion
dcterms:description
"[All mutations, including the one segregating in the CMT2 patient, are localized in the kinesin motor domain except for one, falling within the stalk domain and predicted to generate protein structure destabilization.]. 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:21623771
;
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:NP932823.RAOSA8TLMhRZe-QD2FyGMK0bjPBuJfkri_pPInSChgOf4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:32+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" .
}