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Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

Graves, TD and Imbrici, P and Kors, EE and Terwindt, GM and Eunson, LH and Frants, RR and Haan, J and Ferrari, MD and Goadsby, PJ and Hanna, MG and van den Maagdenberg, AMJM and Kullmann, DM (2008) Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. Neurobiology of Disease, 32 (1). pp. 10-15. DOI https://doi.org/10.1016/j.nbd.2008.06.002



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