http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#head http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#assertion http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#provenance http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#assertion http://rdf.disgenet.org/resource/gda/DGN985ecd34e680ef24844944c65e1cc23f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3172 http://rdf.disgenet.org/resource/gda/DGN985ecd34e680ef24844944c65e1cc23f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3888018 http://rdf.disgenet.org/resource/gda/DGN985ecd34e680ef24844944c65e1cc23f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#provenance http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#assertion http://purl.org/dc/terms/description [This case series follows the evolving course of three patients with confirmed HNF4A-mediated congenital hyperinsulinism, highlighting (1) the variable natural history of these mutations, (2) the potential for prolonged diazoxide requirement, even into adolescence, and (3) the need for screening, regardless of family history.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#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/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23796040 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#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/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/dc/terms/created 2017-10-17T13:13:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP512217.RAyFhilEHicRIqcW7MKBC3EsMihhkx4zqkmcYg897cdHM 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