@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8
> .
@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:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_head
{
this:
np:hasAssertion
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_assertion
;
np:hasProvenance
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_provenance
;
np:hasPublicationInfo
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_assertion
a
np:Assertion
.
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_provenance
a
np:Provenance
.
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_assertion
{
miriam-gene:6121
a
ncit:C16612
.
lld:C0406704
a
ncit:C7057
.
dgn-gda:DGNd2e334c25911ff55c1103ad3b8f7efc4
sio:SIO_000628
miriam-gene:6121
,
lld:C0406704
;
a
sio:SIO_001121
.
}
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_provenance
{
dgn-np:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_assertion
dcterms:description
"[The two amino acids mutated in the families with SHFM appear to be primarily involved in maintenance of the overall structure of the domain, in contrast to the p63 mutations responsible for EEC syndrome, which reside in amino acid residues that directly interact with the DNA.]. 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:10839977
;
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:NP285567.RAP0svYZq8MgCt6nl5DfCoGippXLdmV_NjEefn7q1Bdf8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:55+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" .
}