@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw
> .
@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:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_head
{
this:
np:hasAssertion
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_assertion
;
np:hasProvenance
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_provenance
;
np:hasPublicationInfo
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_assertion
a
np:Assertion
.
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_provenance
a
np:Provenance
.
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_assertion
{
miriam-gene:729230
a
ncit:C16612
.
lld:C0025202
a
ncit:C7057
.
dgn-gda:DGNa9c085120855d7a9b4f0443e57e913bb
sio:SIO_000628
miriam-gene:729230
,
lld:C0025202
;
a
sio:SIO_001122
.
}
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_provenance
{
dgn-np:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_assertion
dcterms:description
"[It seems that examination of sporadic or familial MM cases for the 1100delC germline mutation in CHK2 is not justified. To evaluate whether this CHK2 founder mutation is associated with MM in patients with LFS syndrome, more MM cases from LFS families should be examined.]. 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:15057041
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP59834.RAjIbFgX4xRKRtnk4KxWYPgXvoovGDA7AUkuR48L2oZKw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:28+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" .
}