@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE
> .
@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:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_head
{
this:
np:hasAssertion
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_assertion
;
np:hasProvenance
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_provenance
;
np:hasPublicationInfo
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_assertion
a
np:Assertion
.
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_provenance
a
np:Provenance
.
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0432072
a
ncit:C7057
.
dgn-gda:DGN6405f60f6da8eb6bd978bc0a40be7947
sio:SIO_000628
miriam-gene:4204
,
lld:C0432072
;
a
sio:SIO_001121
.
}
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_provenance
{
dgn-np:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_assertion
dcterms:description
"[Genes proximal to MECP2 that are not duplicated in our patient are likely responsible for additional clinical manifestations including characteristic facial dysmorphic features, microcephaly, hypogonadism and more severe hypotonia, as noted in patients with larger distal Xq duplications.]. 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:19090026
;
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:NP440258.RAf6jYyv7Mr-pu6KHVYbjIkBSEQF6CvbuoYikcAL7nGxE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:20+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" .
}