De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
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| Description | scientific article published on 01 November 2020 |
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author: Markus Ries Naomichi Matsumoto Etsuko Miyagi Xavier Blanc Matias Wagner Kohei Hamanaka Mitsuko Nakashima Naomi Tsuchida Atsushi Takata Hirotomo Saitsu Yuri Uchiyama Emmanuelle Ranza Hiroshi Doi Stilianos Antonarakis Noriko Miyake Toshiyuki Itai Kavitha Rethanavelu Winnie Peitee Ong Hui Bein Chew Yoshinori Tsurusaki |
| Publication date | November 1, 2020 |
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