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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cogan syndrome
Comorbidity C0524851|neurodegenerative diseases
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PubMedID- 21211720 Of note, mutations in the helicase domain of the human sen1 gene ortholog setx (encoding senataxin) cause the neurodegenerative diseases, ataxia with oculomotor apraxia type ii (aoaii), and juvenile amyotrophic lateral sclerosis (als4).

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