@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s
> .
@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:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_head
{
this:
np:hasAssertion
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion
;
np:hasProvenance
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_provenance
;
np:hasPublicationInfo
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion
a
np:Assertion
.
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_provenance
a
np:Provenance
.
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion
{
miriam-gene:4167
a
ncit:C16612
.
lld:C0730294
a
ncit:C7057
.
dgn-gda:DGN98a3c19b37f442a823bea82ad273a8d7
sio:SIO_000628
miriam-gene:4167
,
lld:C0730294
;
a
sio:SIO_001121
.
}
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_provenance
{
dgn-np:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion
dcterms:description
"[MCDR1 interval was refined to 3 cM (1.8mb) between D6S1716 to D6S1671 via fine mapping using microsatellite markers in these six families, all eleven annotated genes within the interval were analyzed by mutation screening in coding regions, no mutation was found, suggesting a potential novel gene or a new pathological mechanism causing NCMD.]. 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:17976682
;
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:NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:31+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" .
}