@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ
> .
@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:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_head
{
this:
np:hasAssertion
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_assertion
;
np:hasProvenance
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_assertion
a
np:Assertion
.
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_provenance
a
np:Provenance
.
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_assertion
{
miriam-gene:4436
a
ncit:C16612
.
lld:C0018939
a
ncit:C7057
.
dgn-gda:DGN6b0e1123bbbe0aa963c9acfec93dfb5b
sio:SIO_000628
miriam-gene:4436
,
lld:C0018939
;
a
sio:SIO_001121
.
}
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_provenance
{
dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_assertion
dcterms:description
"[Notably, two unrelated patients showing RER+ phenotype had an identical missense alteration at codon 419 of hMSH2 in their marrow cells and fibroblasts, which were not found in 120 DNA samples from healthy volunteers or patients with other hematological disorders.]. 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:10450752
;
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:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:44+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" .
}