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http://rdf.disgenet.org/nanopublications.trig#NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_assertion
;
np:hasProvenance
dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_provenance
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np:hasPublicationInfo
dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_assertion
a
np:Assertion
.
dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_provenance
a
np:Provenance
.
dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:8830
a
ncit:C16612
.
lld:C1853566
a
ncit:C7057
.
dgn-gda:DGN8b68cdaf19a7f178191c1a81e97a2036
sio:SIO_000628
miriam-gene:8830
,
lld:C1853566
;
a
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.
}
dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_provenance
{
dgn-np:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_assertion
dcterms:description
"[In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier-Gorlin syndrome, RAPADILINO syndrome, and genitopatellar 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:16143015
;
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:NP699833.RAmc1VMq8cJtFHe1dt_jh2TAmwzEmPIvc63lGEfMqBr2s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:05+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
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