@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg
> .
@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:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_head
{
this:
np:hasAssertion
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_assertion
;
np:hasProvenance
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_provenance
;
np:hasPublicationInfo
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_assertion
a
np:Assertion
.
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_provenance
a
np:Provenance
.
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_assertion
{
miriam-gene:3730
a
ncit:C16612
.
lld:C0010495
a
ncit:C7057
.
dgn-gda:DGNefeab5043dab0ae92eaa274cfc0f5056
sio:SIO_000628
miriam-gene:3730
,
lld:C0010495
;
a
sio:SIO_001121
.
}
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_provenance
{
dgn-np:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_assertion
dcterms:description
"[We recently observed an Italian boy with typical KMS associated with cutis laxa, which, to our knowledge, is an uncommon finding in KMS, never reported in more than 350 KMS cases previously described in the literature.]. 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:16227101
;
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:NP486767.RA7Y5BXb8xV9uVdr-S4EUtiI9D9ZMcD4ZYRsgOUnzDFsg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:51+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" .
}