@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ
> .
@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:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_head
{
this:
np:hasAssertion
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_assertion
;
np:hasProvenance
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_assertion
a
np:Assertion
.
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_provenance
a
np:Provenance
.
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_assertion
{
miriam-gene:54902
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGNb06f39db36d15ded504a5713f110a868
sio:SIO_000628
miriam-gene:54902
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_provenance
{
dgn-np:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_assertion
dcterms:description
"[We performed exome sequencing and selective mutational analysis of TTC19, respectively, in patients from three unrelated families presenting with initially unspecific clinical signs of muscular hypotonia and global developmental delay followed by regression, ataxia, loss of speech, and rapid neurological deterioration.]. 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:25887401
;
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:NP1279036.RA7ittmd9gar3BgYntM6sqvDgibfV19ExFqrjPqk7jyTQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:26+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" .
}