http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_head http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion http://identifiers.org/ncbigene/9289 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/C0014544 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/DGN0a1b1c5ab34d879530f7ab5fa2025f32 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9289 http://rdf.disgenet.org/resource/gda/DGN0a1b1c5ab34d879530f7ab5fa2025f32 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014544 http://rdf.disgenet.org/resource/gda/DGN0a1b1c5ab34d879530f7ab5fa2025f32 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_provenance http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion http://purl.org/dc/terms/description [This patient has a novel GPR56 mutation (R271X) and an unusual phenotype, because he presents hot water epilepsy.To the best of our knowledge, this is the first reported case of BFPP evolving hot water epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_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/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25642806 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_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/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/dc/terms/created 2016-05-13T12:51:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1260180.RAQMC1YC6Wp-ize3WXDUTN4NZiwN77_JMlNlQCYgm6D44 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