http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_head
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
http://identifiers.org/ncbigene/3756
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/C0796013
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/DGN3bb46f48e0d3a637cfedb72ce2f97565
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3756
http://rdf.disgenet.org/resource/gda/DGN3bb46f48e0d3a637cfedb72ce2f97565
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0796013
http://rdf.disgenet.org/resource/gda/DGN3bb46f48e0d3a637cfedb72ce2f97565
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
http://purl.org/dc/terms/description
[In summary, we show that the phenotypic variability of individuals with KCNH1 mutations is more pronounced than previously expected, and we discuss whether KCNH1 mutations allow for lumping or for splitting of TMBTS and ZLS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26264464
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/dc/terms/created
2016-05-13T12:51:32+02:00
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0