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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 |
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability Hamdan, Fadi F.; Gauthier, Julie; Araki, Yoichi; Lin, Da-Ting; Yoshizawa, Yuhki; Higashi, Kyohei; Park, A-Reum; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.88, no.3, pp.306 - 316, 2011-03 |
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