@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo
> .
@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:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_head
{
this:
np:hasAssertion
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_assertion
;
np:hasProvenance
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_provenance
;
np:hasPublicationInfo
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_assertion
a
np:Assertion
.
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_provenance
a
np:Provenance
.
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_assertion
{
miriam-gene:23545
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGNd844b990ee986ead7761dad9b588aa00
sio:SIO_000628
miriam-gene:23545
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_provenance
{
dgn-np:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_assertion
dcterms:description
"[The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wrinkling, an aged look and additional variable systemic involvement including intrauterine growth retardation, failure to thrive, developmental delay, dysmorphism, osseous abnormality, and CNS manifestations.]. 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:21567914
;
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:NP389944.RAWhW-RqYw-hYCmFb_UAMeG3CXdqKIKXINxRa6HD6vXNo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:52+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" .
}