@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4
> .
@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:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_head
{
this:
np:hasAssertion
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_assertion
;
np:hasProvenance
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_provenance
;
np:hasPublicationInfo
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_assertion
a
np:Assertion
.
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_provenance
a
np:Provenance
.
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_assertion
{
miriam-gene:4595
a
ncit:C16612
.
lld:C1333990
a
ncit:C7057
.
dgn-gda:DGN8fc1abb176f2abcf6a68933878e22b30
sio:SIO_000628
miriam-gene:4595
,
lld:C1333990
;
a
sio:SIO_001121
.
}
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_provenance
{
dgn-np:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_assertion
dcterms:description
"[In summary, biallelic germline mutations of MYH are unlikely to cause colorectal cancer in patients sharing clinical features with hereditary nonpolyposis colorectal cancer families without mismatch repair defect and therefore cannot fill the molecular diagnostic gap in this subgroup of Bethesda-positive patients.]. 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:16645203
;
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:NP780079.RAmC1GDKDxgS0BVD6O-Om-0oT6YzrriLhBc0y6VkIRWz4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:52+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: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" .
}