@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls
> .
@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:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_head
{
this:
np:hasAssertion
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion
;
np:hasProvenance
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance
;
np:hasPublicationInfo
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion
a
np:Assertion
.
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance
a
np:Provenance
.
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion
{
miriam-gene:3625
a
ncit:C16612
.
lld:C2699510
a
ncit:C7057
.
dgn-gda:DGNe526c326ef2dcb4467ac9bbf7ef8a926
sio:SIO_000628
miriam-gene:3625
,
lld:C2699510
;
a
sio:SIO_001121
.
}
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_provenance
{
dgn-np:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_assertion
dcterms:description
"[To investigate whether mutation of a gene in proximity to the chromosome 2 breakpoint underlies the SHFLD, we sought independent evidence of mutations in GLI2, INHBB and two other genes (RALB and FLJ14816) in 44 unrelated patients with SHFM, SHFLD or isolated long bone deficiency.]. 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:17569090
;
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:NP615267.RAtJeAfSh-vaKX8LDZW0AyWSCCRQgcuPEivR_6vSnHlls130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:24+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" .
}