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http://rdf.disgenet.org/nanopublications.trig#NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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http://linkedlifedata.com/resource/umls/id/
> .
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http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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dgn-np:NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_publicationInfo
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a
np:Nanopublication
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dgn-np:NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion
a
np:Assertion
.
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a
np:Provenance
.
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{
miriam-gene:5741
a
ncit:C16612
.
lld:C2940786
a
ncit:C7057
.
dgn-gda:DGN43e5a3b37df9ac7f38108a9b5ffa4238
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,
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a
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.
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dgn-np:NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_provenance
{
dgn-np:NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_assertion
dcterms:description
"[This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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sio:SIO_000772
miriam-pubmed:21274302
;
prov:wasDerivedFrom
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prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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 .
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dgn-np:NP477483.RADwX6zrzFgdXMBpPOZ3t4MerlCA7q-LYPyCei-je13T4130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
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prv:usedData
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