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CACNA1G activates adult-onset spinocerebellar ataxia 42. 1 / 1

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"Although a recurrent heterozygous mutation (p.Arg1715His) in CACNA1G is known to cause adult-onset spinocerebellar ataxia 42 (SCA42 * 616795), gain-of-function mutations in this gene have recently been identified by whole exome sequencing (WES) in four children with cerebellar atrophy and ataxia, psychomotor delay, and other variable features."

31836334

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IndraLab

Statements

CACNA1G activates adult-onset spinocerebellar ataxia 42. 1 / 1

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