@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA
> .
@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:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_head
{
this:
np:hasAssertion
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_assertion
;
np:hasProvenance
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_provenance
;
np:hasPublicationInfo
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_assertion
a
np:Assertion
.
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_provenance
a
np:Provenance
.
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_assertion
{
miriam-gene:4878
a
ncit:C16612
.
lld:C0078918
a
ncit:C7057
.
dgn-gda:DGN1c19e99d8d862409b5880376562ca654
sio:SIO_000628
miriam-gene:4878
,
lld:C0078918
;
a
sio:SIO_001121
.
}
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_provenance
{
dgn-np:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_assertion
dcterms:description
"[Common examples of skin conditions which can be prenatally diagnosed include epidermolysis bullosa, oculocutaneous albinism and Harlequin ichthyosis in which the severity of the clinical phenotype appears to justify PND in families at risk.]. 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:9890368
;
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:NP249926.RA5IJ5hNJ_B_9VIfSOL9_7GND1qn9QPJY1PvsSOrnd5HA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:19+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" .
}