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Identifying Gene Mutations in Autosomal Recessive Cerebellar Ataxias and Extending the Mutational Spectrum in China

2021-07-01

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Autosomal recessive cerebellar ataxias (ARCA) are heterogeneous, complex, disabling neurodegenerative diseases characterized by autosomal recessive inheritance and cerebellar ataxia. Numerous mutations are described in several populations. However, in China, few data are available concerning ARCA. In this study, we aimed to identify ARCA<italic>-</italic>associa...

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Literature Corpus work: 0d7f6cb4-82ec-5ace-b395-84ca194f692e
DOI: 10.21203/rs.3.rs-577033/v1

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