Making sense of missense variants in TTN-related congenital myopathies
理解 TTN 相关先天性肌病中的错义变异
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-020-02257-0
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A Fernandez-Garcia, Elizabeth Wraige, Istvan Bodi, Charu Deshpande, Özkan Özdemir, Hülya-Sevcan Daimagüler, Mark Pfuhl, Mark Holt, Birgit Brandmeier, Sarah Grover, Joël Fluss, Cheryl Longman, Maria Elena Farrugia, Emma Matthews, Mi