http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#head
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#assertion
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#provenance
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#assertion
http://rdf.disgenet.org/resource/gda/DGNef5477195a6329d2ababe8c7603ae33a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3786
http://rdf.disgenet.org/resource/gda/DGNef5477195a6329d2ababe8c7603ae33a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0220669
http://rdf.disgenet.org/resource/gda/DGNef5477195a6329d2ababe8c7603ae33a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#provenance
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#assertion
http://purl.org/dc/terms/description
[PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#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/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23073245
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#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/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/dc/terms/created
2017-10-17T13:14:07+02:00
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP618144.RAOlpqcdm89ze2Jd9hzFng3H0_2iCpA5QCuFGwAMC32VY
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