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Saida K, Tamaoki J, Sasaki M, Haniffa M, Koshimizu E, Sengoku T, Maeda H, Kikuchi M, Yokoyama H, Sakamoto M, Iwama K, Sekiguchi F, Hamanaka K, Fujita A, Mizuguchi T, Ogata K, Miyake N, Miyatake S, Kobayashi M, Matsumoto N. Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Clinical Genetics. 2021 Oct 07;100(6):722–30. doi: 10.1111/cge.14066. |