@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_head
{
this:
np:hasAssertion
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_assertion
;
np:hasProvenance
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_provenance
;
np:hasPublicationInfo
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_assertion
a
np:Assertion
.
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_provenance
a
np:Provenance
.
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_assertion
{
miriam-gene:2641
a
ncit:C16612
.
lld:C0006826
a
ncit:C7057
.
dgn-gda:DGN7696f1e42ee86c3b19e1c78ba9275b40
sio:SIO_000628
miriam-gene:2641
,
lld:C0006826
;
a
sio:SIO_001121
.
}
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_provenance
{
dgn-np:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_assertion
dcterms:description
"[Of the MSI cancers containing the PTEN mutation, case 36 had a missense mutation from Lys (AAA) to Glu (GAA) at codon 254, case 43 contained a frameshift mutation (one A deletion) in a 6 bp poly(A) tract affecting codon 265-267, and case 64 harbored two missense mutations from Val (GTG) to Ala (GCG) at codon 222, and from Gly (GGA) to Arg (AGA) at codon 230 indicating biallelic mutation of PTEN.]. 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:12370746
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP164847.RAcyfxZSujQwwVurwvk_jE_kB9UgdXoCSNA_TYUBe5hQY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:29+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}