Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation
分类模型区分KCNQ1变异体的功能效应和转运效应,以增强对变异体的解读。
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影响因子:
doi:10.1101/2025.10.31.685955
Chang-Gonzalez, Ana C; Bell, Eric W; Vanoye, Carlos G; Guadarrama, Eduardo; Desai, Reshma R; DeKeyser, Jean-Marc; Butcher, Kathryn R; Scott, Thomas; Sanders, Charles R; George, Alfred L Jr; Ledwitch, Kaitlyn V; Meiler, Jens