http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_head http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_assertion http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_provenance http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_assertion http://identifiers.org/ncbigene/112476 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/C0220669 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/DGNf4f58e1fa6cdd2c43a18f04a4a6c5607 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/112476 http://rdf.disgenet.org/resource/gda/DGNf4f58e1fa6cdd2c43a18f04a4a6c5607 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0220669 http://rdf.disgenet.org/resource/gda/DGNf4f58e1fa6cdd2c43a18f04a4a6c5607 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_provenance http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_assertion http://purl.org/dc/terms/description [PRRT2 gene was initially identified as the major gene responsible for PKD followed by presence of various PRRT2 mutations discovered in families with benign familial infantile convulsions (BFIC) and infantile convulsions and choreoathetosis (ICCA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_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/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22902309 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_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/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/dc/terms/created 2016-05-13T12:49:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1006195.RAHxd0Te6gmdDwoMgVuzECml2MHBF0VtRM5ZpJ3rHA4Nk 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