@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck
> .
@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/v4.0.0/void/
> .
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_head
{
this:
np:hasAssertion
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_assertion
;
np:hasProvenance
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_provenance
;
np:hasPublicationInfo
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_assertion
a
np:Assertion
.
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_provenance
a
np:Provenance
.
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_assertion
{
miriam-gene:8626
a
ncit:C16612
.
lld:C2931019
a
ncit:C7057
.
dgn-gda:DGN0ea23cf599b80fca1cbc0d6ce016907d
sio:SIO_000628
miriam-gene:8626
,
lld:C2931019
;
a
sio:SIO_001121
.
}
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_provenance
{
dgn-np:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_assertion
dcterms:description
"[These patients and others reported as FATCO seem to belong to the phenotype fibular aplasia with ectrodactyly. Genetic screening for CNVs and mutations in the TP63 and WNT10B genes did not show any genetic abnormalities.]. 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:22628253
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP985016.RAyID976jupgzKxOrbJ6j-_09jzBged6euNvP9Goz61ck130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:11+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}