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Results 1 - 1 of 1 for Spinocerebellar ataxia 46
  1. TWNK gene 
    ... gene have been found to cause infantile-onset spinocerebellar ataxia (IOSCA). The most common mutation replaces the protein ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics