@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38
> .
@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/v3.0.0/void/
> .
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{
this:
np:hasAssertion
dgn-np:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_assertion
a
np:Assertion
.
dgn-np:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_provenance
a
np:Provenance
.
dgn-np:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_publicationInfo
a
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.
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dgn-np:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_assertion
{
miriam-gene:1861
a
ncit:C16612
.
lld:C0266006
a
ncit:C7057
.
dgn-gda:DGN287b3b1b61492f1c63ba3995db2cc341
sio:SIO_000628
miriam-gene:1861
,
lld:C0266006
;
a
sio:SIO_001121
.
}
dgn-np:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_provenance
{
dgn-np:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_assertion
dcterms:description
"[Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles.]. 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:16874761
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP362850.RAlkNhbwWAmVi9Y4H4oPiMAqEahrqpVa0Se5AM6FGPM38130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:09+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
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;
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
"v3.0.0.0" .
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pav:version
"v3.0.0" .
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