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Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy.

Human genetics - 1 Aug 2009

Provenzano Giovanni, Mannarino E, Annesi F, De Marco E V, Rocca F E, Greco V, Scornaienchi V, Tarantino P, Civitelli D, Quattrone A, Tortorella G, Annesi G

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PMID: 19694011

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