ArticleAmerican journal of human genetics2005
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.
Kinya Ishikawa et al.PubMed ↗Full text ↗Publisher ↗
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