@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0
> .
@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:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_head
{
this:
np:hasAssertion
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_assertion
;
np:hasProvenance
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_provenance
;
np:hasPublicationInfo
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_assertion
a
np:Assertion
.
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_provenance
a
np:Provenance
.
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_assertion
{
miriam-gene:4436
a
ncit:C16612
.
lld:C1333990
a
ncit:C7057
.
dgn-gda:DGN3c1235daf0df412c9602278d42e219ed
sio:SIO_000628
miriam-gene:4436
,
lld:C1333990
;
a
sio:SIO_001121
.
}
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_provenance
{
dgn-np:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_assertion
dcterms:description
"[This method allowed us to confirm in HNPCC families three known deletions of MLH1 or MSH2 and to detect in 19 HNPCC families, in which analysis of mismatch repair genes using classical methods had revealed no alteration, a deletion of exon 5 and a duplication of MSH2 involving exons 9 and 10.]. 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:10850409
;
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:NP286217.RAUu90oWi-nmNhy8zCEWBrpsUFyTTb-RN0BXyPGRC1Mm0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:55+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" .
}