@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8
> .
@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:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_head
{
this:
np:hasAssertion
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_assertion
;
np:hasProvenance
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_provenance
;
np:hasPublicationInfo
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_assertion
a
np:Assertion
.
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_provenance
a
np:Provenance
.
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_assertion
{
miriam-gene:3239
a
ncit:C16612
.
lld:C2699746
a
ncit:C7057
.
dgn-gda:DGNa3edda19d9da336e1cf4b560835c0acc
sio:SIO_000628
miriam-gene:3239
,
lld:C2699746
;
a
sio:SIO_001121
.
}
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_provenance
{
dgn-np:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_assertion
dcterms:description
"[Similar types of mutation (plus eight alanines) have recently been found in another HFGS family and also in the human HOXD13 gene (plus seven up to plus 14 residues) where it leads to synpolydactyly (SPD), a further congenital limb malformation rarely associated with genital 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:12073020
;
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:NP358198.RAXd87DITaP3VzLERVBOLzaTxE_qfvlN2b-ZwTjq5IbT8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:27+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" .
}