http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#head
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#assertion
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#provenance
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#assertion
http://rdf.disgenet.org/resource/gda/DGN7505facff8aeea26ac1ad940a9df83ec
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1917
http://rdf.disgenet.org/resource/gda/DGN7505facff8aeea26ac1ad940a9df83ec
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0014544
http://rdf.disgenet.org/resource/gda/DGN7505facff8aeea26ac1ad940a9df83ec
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#provenance
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#assertion
http://purl.org/dc/terms/description
[Four probands had de novo mutations in genes previously shown to harbor heterozygous mutations in patients with severe, early onset epilepsies (two in SCN1A, and one each in CDKL5 and EEF1A2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#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/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23647072
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#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/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/dc/terms/created
2017-10-17T13:12:09+02:00
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP310936.RAPIkT9NMVHjC_frx_EiHz_K0Vn1qCb3zQleZiv4XH3kU
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