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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia
Comorbidity C0020179|huntington\'s disease
Sentences 2
PubMedID- 22715390 Expanded dna repeat sequences are known to cause over 20 diseases, including huntington's disease, several types of spinocerebellar ataxia and myotonic dystrophy type 1 and 2.
PubMedID- 26270660 Polyglutamine diseases, including huntington's disease and a number of spinocerebellar ataxias, are caused by expanded cag repeats that are located in translated sequences of individual, functionally-unrelated genes.

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