@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg
> .
@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:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_head
{
this:
np:hasAssertion
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_assertion
;
np:hasProvenance
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_provenance
;
np:hasPublicationInfo
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_assertion
a
np:Assertion
.
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_provenance
a
np:Provenance
.
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_assertion
{
miriam-gene:2261
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN1823edb45f04c6e3a0e8a071ee1f73c3
sio:SIO_000628
miriam-gene:2261
,
lld:C0424605
;
a
sio:SIO_001122
.
}
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_provenance
{
dgn-np:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_assertion
dcterms:description
"[We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.]. 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:10053006
;
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:NP246827.RAG8UXv8FPab-tUEtqwlGz0D-rIx2rh-JZW_omQjYT_Eg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:38+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" .
}