@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM
> .
@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:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_head
{
this:
np:hasAssertion
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_assertion
;
np:hasProvenance
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_provenance
;
np:hasPublicationInfo
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_assertion
a
np:Assertion
.
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_provenance
a
np:Provenance
.
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_assertion
{
miriam-gene:57556
a
ncit:C16612
.
lld:C0575158
a
ncit:C7057
.
dgn-gda:DGN3add627fcc9501c68b07c9f126efa8e2
sio:SIO_000628
miriam-gene:57556
,
lld:C0575158
;
a
sio:SIO_001121
.
}
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_provenance
{
dgn-np:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_assertion
dcterms:description
"[We conclude that the Nevo syndrome is allelic to and clinically indistinguishable from EDS VIA, and present evidence that increased length at birth and wristdrop, in addition to muscular hypotonia and kyphoscoliosis, should prompt the physician to consider EDS VIA earlier than heretofore.]. 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:15666309
;
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:NP244853.RAhc0t3Vo_2JyOtAEzCAqdrqHzAul7jRzXM4B5WQNllRM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:17+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" .
}