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De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Lee, Jae-Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So-Hee; Brunel-Guitton, Catherine; Decarie, Jean-Claude; et al, HUMAN MUTATION, v.36, no.1, pp.69 - 78, 2015-01

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