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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cerebellar ataxia
Comorbidity C0042875|vitamin e deficiency
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PubMedID- 22720116 Furthermore, mutations in the gene coding for the α-tocopherol transporter protein (α-ttp) result in a neurologic syndrome of spinocerebellar ataxia called ataxia with vitamin e deficiency or aved.

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