@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk
> .
@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:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_head
{
this:
np:hasAssertion
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_assertion
;
np:hasProvenance
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_provenance
;
np:hasPublicationInfo
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_assertion
a
np:Assertion
.
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_provenance
a
np:Provenance
.
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_assertion
{
miriam-gene:10397
a
ncit:C16612
.
lld:C0027888
a
ncit:C7057
.
dgn-gda:DGN365ddde765366d29339244c85e1af3f5
sio:SIO_000628
miriam-gene:10397
,
lld:C0027888
;
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.
}
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_provenance
{
dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_assertion
dcterms:description
"[We describe a form of hereditary motor and sensory neuropathy (HMSN) affecting four siblings in an Italian family of Gypsy ethnic origin with both clinical and pathological findings very reminiscent of the HMSN Lom type (HMSNL), recently described in a group of Bulgarian Gypsies.]. 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:9631399
;
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 .
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dgn-np:NP768238.RAXnh0cK0HSDdgROOutFs7oKZvBeIuPnaSk2v6JS-vUNk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:45+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
<
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> , <
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
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