Prevalence (%) of clinical parameters based on data from 1 references describing 3 individuals
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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Hiroshi Takashima, Cornelius F Boerkoel, Joy John, Gulam Mustafa Saifi, Mustafa A M Salih, Dawna Armstrong, Yuxin Mao, Florante A Quiocho, Benjamin B Roa, Masanori Nakagawa, David W Stockton, James R Lupski,
Nature genetics - Oct 2002