De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
Itai, Toshiyuki, Hamanaka, Kohei, Sasaki, Kazunori, Wagner, Matias, Kotzaeridou, Urania, Brösse, Ines, Ries, Markus, Kobayashi, Yu, Tohyama, Jun, Kato, Mitsuhiro, Ong, Winnie P., Chew, Hui B., Rethanavelu, Kavitha, Ranza, Emmanuelle, Blanc, Xavier, Uchiyama, Yuri, Tsuchida, Naomi, Fujita, Atsushi, Azuma, Yoshiteru, Koshimizu, Eriko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Takahashi, Hidehisa, Miyagi, Etsuko, Tsurusaki, Yoshinori, Doi, Hiroshi, Taguri, Masataka, Antonarakis, Stylianos E., Nakashima, Mitsuko, Saitsu, Hirotomo, Miyatake, Satoko, Matsumoto, Naomichi
Published in Human mutation (01.01.2021)
Published in Human mutation (01.01.2021)
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