Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.
- NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_assertion description "[Mutations in the SCN1A gene are found in up to 80% of individuals with severe myoclonic epilepsy of infancy (SMEI), and mutations in KCNQ2 and KCNQ3 were identified in benign familial neonatal convulsions (BFNC) as well as in single families with Rolandic epilepsy (RE) and idiopathic generalized epilepsies (IGE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.
- NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_assertion evidence source_evidence_literature NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.
- NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_assertion SIO_000772 19464834 NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.
- NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_assertion wasDerivedFrom befree-20140225 NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.
- NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_assertion wasGeneratedBy ECO_0000203 NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP264465.RAbjLVQay2ndT6S_sDaf9dP2RvjOLnT3H5_FnmTtAqdcU130_provenance.