@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA
> .
@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:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_head
{
this:
np:hasAssertion
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_assertion
;
np:hasProvenance
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_provenance
;
np:hasPublicationInfo
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_assertion
a
np:Assertion
.
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_provenance
a
np:Provenance
.
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0032897
a
ncit:C7057
.
dgn-gda:DGN30e7e880e5923c44fb2a3dd8df212a57
sio:SIO_000628
miriam-gene:4204
,
lld:C0032897
;
a
sio:SIO_001121
.
}
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_provenance
{
dgn-np:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_assertion
dcterms:description
"[Mutational analysis of MECP2 was performed in mentally retarded female patients who were negative for FMR1 CGG repeat expansion, in male and female patients with clinical features suggestive of either Angelman or Prader-Willi syndrome without methylation defects on chromosome 15q11-q13.]. 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:14560307
;
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:NP336352.RAxnk9RXyrCWwC2-57rnUQaiQbY8hhC8sXV2PmK2CCkDA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:18+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" .
}