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Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
Otero MG, Tiongson E, Diaz F, Haude K, Panzer K, Collier A, Kim J, Adams D, Tifft CJ, Cui H, Millian Zamora F, Au MG, Graham JM Jr, Buckley DJ, Lewis R, Toro C, Bai R, Turner L, Mathews KD, Gahl W, Pierson TM. . McCarthy CG, et al. JCI Insight. 2021 Sep 9:149037. doi: 10.1172/jci.insight.149037. Online ahead of print. JCI Insight. 2021. PMID: 34499623 .