@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY
> .
@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:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_head
{
this:
np:hasAssertion
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_assertion
;
np:hasProvenance
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_provenance
;
np:hasPublicationInfo
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_assertion
a
np:Assertion
.
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_provenance
a
np:Provenance
.
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_assertion
{
miriam-gene:3315
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNfb1e1da5852e31e52a998584a4777434
sio:SIO_000628
miriam-gene:3315
,
lld:C0007959
;
a
sio:SIO_001122
.
}
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_provenance
{
dgn-np:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_assertion
dcterms:description
"[The C379T mutation in Hsp27 also causes CMT disease type 2, except for distal hereditary motor neuropathy, and the phenotypes are distinct from the family with CMT disease type 2F described previously.]. 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:16087758
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP57445.RAkjhyTglxPflsFZwbPdm9vaDXuX4-V1Vl8bd7SfbWelY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:27+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" .
}