@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw
> .
@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:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_head
{
this:
np:hasAssertion
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_assertion
;
np:hasProvenance
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_provenance
;
np:hasPublicationInfo
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_assertion
a
np:Assertion
.
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_provenance
a
np:Provenance
.
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_assertion
{
miriam-gene:23203
a
ncit:C16612
.
lld:C0007758
a
ncit:C7057
.
dgn-gda:DGN79cae3a4fec86d17736b82f3d1bd6a78
sio:SIO_000628
miriam-gene:23203
,
lld:C0007758
;
a
sio:SIO_001121
.
}
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_provenance
{
dgn-np:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_assertion
dcterms:description
"[We report the identification of mutations in PMPCA in 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family previously described with autosomal recessive cerebellar ataxia and short stature of Norman type and localized to chromosome 9q34 (OMIM #213200).]. 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:25808372
;
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:NP1273784.RA0zAGxKTIUJNpQkiJDlxlqoj0hhmLRqkTHsMeb9phamw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:23+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" .
}