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Publication Date2015-01 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy
Jae-Ran Lee; Myriam Srour; Doyoun Kim, et al
HUMAN MUTATION, v.36, no.1, pp.69 - 78
Publication Date2015-10 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
Emil Ylikallio; Doyoun Kim; Pirjo Isohanni, et al
EUROPEAN JOURNAL OF HUMAN GENETICS, v.23, no.10, pp.1427 - 1430

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