@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs
> .
@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:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_head
{
this:
np:hasAssertion
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_assertion
;
np:hasProvenance
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_provenance
;
np:hasPublicationInfo
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_assertion
a
np:Assertion
.
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_provenance
a
np:Provenance
.
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_assertion
{
miriam-gene:5048
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN948f52c4ddf8806a8ac544369e552b1e
sio:SIO_000628
miriam-gene:5048
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_provenance
{
dgn-np:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_assertion
dcterms:description
"[This report describes three children with de novo 17p13.1 duplications encompassing the PAFAH1B1 gene, who had similar phenotypic features, including mild to moderate developmental delay, hypotonia and facial dysmorphism, and compares them to the few previously reported cases with this duplication.]. 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:19520700
;
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:NP377346.RA6VDm8MKs5MTZOqYKLSqtd2jGH4hZRGFR15lvC2l0yYs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:40+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" .
}