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1. Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2.

Author

Sivák Š, Kurča E, Krajčiová A, Hikkelová M, Šimko J, Mišovicová N, Kantorová E, Turčanová-Koprušáková M, Burjanivová T, Čierny D, and Nosál' V

Subjects
Ataxia physiopathology, Family, Humans, Male, Nystagmus, Pathologic physiopathology, Pedigree, Young Adult, Ataxia genetics, Calcium Channels genetics, Mutation, Missense, Nystagmus, Pathologic genetics
Published
2017
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