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Genetic Spectrum and Clinical Features in a Cohort of Chinese Patients with Autosomal Recessive Cerebellar Ataxias

2021-06-12

Abstract excerpt

<h4>Background: </h4> Although many causative genes have been uncovered in recent years, genetic diagnosis is still missing for approximately 50% of autosomal recessive cerebellar ataxia (ARCA) patients. Few studies have been performed to determine the genetic spectrum and clinical profiles of ARCA patients in the Chinese population. <h4>Methods: </h4>: Fifty-four Chinese index patients with unexplained autosomal...

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Literature Corpus work: 00eca104-7bc5-539e-938d-95a3db5da6af
DOI: 10.21203/rs.3.rs-576861/v1

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