Supplementary Tables to \"Modeling clinical phenotypes with protein function to explain the disease spectrum in patients with CHIP mutations\"

Jonathan Schisler
Monogenetic disorders that cause cerebellar ataxia are characterized by defects in gait and atrophy of the cerebellum, however, patients often suffer from a spectrum of disease, complicating treatment options. Spinocerebellar autosomal recessive 16 (SCAR16) is caused by coding mutations in \textit{STUB1}, a gene that encodes the multi-functional enyzme CHIP (C-terminus of HSC70-interacting protein). The spectrum of disease found in SCAR16 patients includes a wide range in the age of disease onset, cognitive dysfunction, increased tendon...
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