@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k
> .
@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/v3.0.0/void/
> .
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_head
{
this:
np:hasAssertion
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_assertion
;
np:hasProvenance
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_provenance
;
np:hasPublicationInfo
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_assertion
a
np:Assertion
.
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_provenance
a
np:Provenance
.
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_assertion
{
miriam-gene:3239
a
ncit:C16612
.
lld:C0206762
a
ncit:C7057
.
dgn-gda:DGNa6ee7a64097ef1e2521800073303ab63
sio:SIO_000628
miriam-gene:3239
,
lld:C0206762
;
a
sio:SIO_001121
.
}
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_provenance
{
dgn-np:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP463386.RAtx69HQTEV7V69H9vSSnoXVvTYyfsKEuH94jiCQ3k14k130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:12+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}