Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
To examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes. One hundred and seventy patients with ataxia of unknown etiology referred from clinics throughout the United States and Canada were studied using a ta...
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Veröffentlicht in: | Genetics in medicine 2019-01, Vol.21 (1), p.195-206 |
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Sprache: | eng |
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