@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g
> .
@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:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_head
{
this:
np:hasAssertion
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_assertion
;
np:hasProvenance
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_provenance
;
np:hasPublicationInfo
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_assertion
a
np:Assertion
.
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_provenance
a
np:Provenance
.
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_assertion
{
miriam-gene:5048
a
ncit:C16612
.
lld:C0266617
a
ncit:C7057
.
dgn-gda:DGNf6fc14405478573db90a7ff5ac52d430
sio:SIO_000628
miriam-gene:5048
,
lld:C0266617
;
a
sio:SIO_001121
.
}
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_provenance
{
dgn-np:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_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:NP164719.RANhqORuMcv8K_pWifuBQfKH6FmAyEGyxNvza6C5o6f3g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:29+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" .
}