http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_head
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_assertion
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_provenance
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_assertion
http://identifiers.org/ncbigene/6658
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0033806
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGN5a4ac31b05737a08507ed11c3203b7e1
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6658
http://rdf.disgenet.org/resource/gda/DGN5a4ac31b05737a08507ed11c3203b7e1
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0033806
http://rdf.disgenet.org/resource/gda/DGN5a4ac31b05737a08507ed11c3203b7e1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_provenance
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_assertion
http://purl.org/dc/terms/description
[Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24945424
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/dc/terms/created
2015-08-25T14:44:47+02:00
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP708392.RAv32mZKduqRxQbmbIuqkokE0b4HoYSlFR2UZk2R-WHP8
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0