@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ
> .
@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:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_head
{
this:
np:hasAssertion
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_assertion
;
np:hasProvenance
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_assertion
a
np:Assertion
.
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_provenance
a
np:Provenance
.
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_assertion
{
miriam-gene:5781
a
ncit:C16612
.
lld:C0848332
a
ncit:C7057
.
dgn-gda:DGN7cede7645f9d1b4cefbbdefa414a818e
sio:SIO_000628
miriam-gene:5781
,
lld:C0848332
;
a
sio:SIO_001122
.
}
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_provenance
{
dgn-np:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_assertion
dcterms:description
"[We suggest that the atypical severe symptoms in the index patient may be caused by an additive effect on the F285L mutation in PTPN11 by another mutation, for example the NF1 R1809C or alternatively, the not yet identified gene mutation associated with CAL spots in this family.]. 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:19120036
;
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:NP660691.RAGciSZdsxva-j8QNj_upORaXH3Sx-0s-HclQ6u4hs4aQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:17+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" .
}