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Results 1 - 2 of 2 for Autosomal recessive spinocerebellar ataxia 2
  1. TPP1 gene 
    ... JT, van de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34( ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  2. TWNK gene 
    ... stalling. Hum Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359. Epub 2008 Oct ... recessive ataxia syndrome are associated with neuronal complex I ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics