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bibliographicCitation Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N. Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report. BMC Neurology. 2019 Oct 27;19(1):253. doi: 10.1186/s12883-019-1489-x.
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title Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
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