http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#head http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#assertion http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#provenance http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#assertion http://rdf.disgenet.org/resource/gda/DGN47870f695a1a792beb19bbe92f410286 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3756 http://rdf.disgenet.org/resource/gda/DGN47870f695a1a792beb19bbe92f410286 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0796013 http://rdf.disgenet.org/resource/gda/DGN47870f695a1a792beb19bbe92f410286 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#provenance http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#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/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26264464 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/dc/terms/created 2017-10-17T13:14:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP614170.RAuqcYdgZRNhCU_VW0hK3CxCEh-y8VqAqP-zTvgEfPscw http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0