@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM
> .
@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:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_head
{
this:
np:hasAssertion
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_assertion
;
np:hasProvenance
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_provenance
;
np:hasPublicationInfo
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_assertion
a
np:Assertion
.
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_provenance
a
np:Provenance
.
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_assertion
{
miriam-gene:4878
a
ncit:C16612
.
lld:C0239849
a
ncit:C7057
.
dgn-gda:DGN889a232ce7af242156ce05b856e051a0
sio:SIO_000628
miriam-gene:4878
,
lld:C0239849
;
a
sio:SIO_001121
.
}
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_provenance
{
dgn-np:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_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:NP421191.RA5s_2Xm9cu7km0fUarbZIfmGF4dDshCUPIWrpARnibZM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:10+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" .
}