THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome
THRB剪接位点变异导致外显子4跳跃和TRβ1功能获得综合征
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doi:10.64898/2026.04.13.718280
Singh, Deepak K; Zhou, Hongwei; Sherpa, Nyima; Zheng, Xiang Yu; Lomakin, Artem; Razghandi, Pedram; Hunag, Xin; Kadamb, Rama; Shukla, Suryansh; Valencia Salazar, Luis E; Entenberg, David; Zheng, Deyou; Curtis, Christina; Wang, Jianlong; Aguirre-Ghiso, Julio A; Hönes, Georg Sebastian; Liao, Xiao-Hui; Mahler, Elisa Annabelle; Herrmann, Philipp; Eckstein, Anja; Führer, Dagmar; Castillo, Jesus Moreno; Chiang, John; Vincent, Andrea Louise; Weiss, Roy E; Dumitrescu, Alexandra Mihaela; Refetoff, Samuel; Moeller, Lars Christian
