@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ
> .
@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:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_head
{
this:
np:hasAssertion
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_assertion
;
np:hasProvenance
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_assertion
a
np:Assertion
.
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_provenance
a
np:Provenance
.
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_assertion
{
miriam-gene:249
a
ncit:C16612
.
lld:C0020630
a
ncit:C7057
.
dgn-gda:DGNc8a6e3ae6617ae7bc1a1c9f1da978f75
sio:SIO_000628
miriam-gene:249
,
lld:C0020630
;
a
sio:SIO_001121
.
}
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_provenance
{
dgn-np:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_assertion
dcterms:description
"[They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly to variable residual enzymatic activities allowed by missense mutations found in the human TNSALP gene.]. 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:10332035
;
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:NP252931.RArh5UUGgeAVh7v4ILDIP_8LRgcqsVQDX9E2mUIbHcnpQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:40+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" .
}