@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_head
{
this:
np:hasAssertion
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_assertion
;
np:hasProvenance
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_provenance
;
np:hasPublicationInfo
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_assertion
a
np:Assertion
.
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_provenance
a
np:Provenance
.
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_assertion
{
miriam-gene:1442
a
ncit:C16612
.
lld:C0220722
a
ncit:C7057
.
dgn-gda:DGN1c9847d8863d9b41b1f5e3896287df66
sio:SIO_000628
miriam-gene:1442
,
lld:C0220722
;
a
sio:SIO_001121
.
}
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_provenance
{
dgn-np:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_assertion
dcterms:description
"[We predict that future patients with COFS syndrome will be found to have mutations in the CSA or XPB genes, and we document successful use of DNA repair for prenatal diagnosis in triplet and singleton pregnancies at risk for COFS syndrome.]. 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:11443545
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP332328.RAh7JBK_HhW_uLxuI8-ZVUQxSNwGt02F67P39IbQZUNhs130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:51+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}