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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cerebellar ataxia
Comorbidity C0524851|neurodegenerative disease
Sentences 1
PubMedID- 25327705 This concept is best illustrated by a catalytic tdp1 mutant that forms the molecular basis of the autosomal recessive neurodegenerative disease spinocerebellar ataxia with axonal neuropathy, and results in an increased stability of its tdp1-dna reaction intermediate.

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