@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE
> .
@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:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_head
{
this:
np:hasAssertion
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_assertion
;
np:hasProvenance
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_provenance
;
np:hasPublicationInfo
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_assertion
a
np:Assertion
.
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_provenance
a
np:Provenance
.
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_assertion
{
miriam-gene:3990
a
ncit:C16612
.
lld:C3151466
a
ncit:C7057
.
dgn-gda:DGN6b3fcefb12ea6b1e7bc12cf5be6df50d
sio:SIO_000628
miriam-gene:3990
,
lld:C3151466
;
a
sio:SIO_001122
.
}
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_provenance
{
dgn-np:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_assertion
dcterms:description
"[We now report the identification of three more hepatic lipase gene mutations in this family and demonstrate that compound heterozygosity for two hepatic lipase mutations (designated S267F and T383M) underlies hepatic lipase 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:1883393
;
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:NP696379.RA-LnjGlyJ9OxHYDLjakTwULlYafnG4XcKSW6R7uNrHlE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:00+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" .
}