Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_assertion> ?p ?o ?g. }
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- NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_assertion type Assertion NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_head.
- NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_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." NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_provenance.
- NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_assertion evidence source_evidence_literature NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_provenance.
- NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_assertion SIO_000772 19464834 NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_provenance.
- NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_assertion wasDerivedFrom befree-20150227 NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_provenance.
- NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_assertion wasGeneratedBy ECO_0000203 NP523387.RAfsHtrNdcFys744eN4uW9qValkvvHasG5eHDtq4VKGKw130_provenance.