@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY
> .
@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:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_head
{
this:
np:hasAssertion
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_assertion
;
np:hasProvenance
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_provenance
;
np:hasPublicationInfo
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_assertion
a
np:Assertion
.
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_provenance
a
np:Provenance
.
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0027831
a
ncit:C7057
.
dgn-gda:DGN12525d93e2f5c71dd29456270c9b7c6c
sio:SIO_000628
miriam-gene:4763
,
lld:C0027831
;
a
sio:SIO_001121
.
}
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_provenance
{
dgn-np:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_assertion
dcterms:description
"[The underestimates of NF1 gene mutations in neurofibromatosis 1 (NF1) have been attributed to the large size of the NF1 gene, the considerable frequency of gross deletions and the common occurrence of splicing defects that are only detectable by cDNA analysis.]. 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:13680360
;
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:NP411983.RApFtzXGFqiSK6zn5ANyYPxmbzLC9qvcMxmRdkZ6H6_BY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:52+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" .
}