Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
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DOI: 10.1038/s41436-018-0007-7
Abstract: PurposeTo examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes.MethodsOne hundred and seventy patients with ataxia of unknown etiology referred from clinics… read more here.
Keywords: range ataxia; analysis; related phenotypes; ataxia related ... See more keywords