Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders
靶向长读长测序作为单一检测方法可提高痉挛性共济失调疾病的诊断率
期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.70008
Rudaks, Laura Ivete; Stevanovski, Igor; Yeow, Dennis; Reis, Andre L M; Chintalaphani, Sanjog R; Cheong, Pak Leng; Gamaarachchi, Hasindu; Worgan, Lisa; Ahmad, Kate; Hayes, Michael; Hannaford, Andrew; Kim, Samuel; Fung, Victor S C; Halmagyi, Gabor M; Martin, Andrew; Manser, David; Tchan, Michel; Ng, Karl; Kennerson, Marina L; Deveson, Ira W; Kumar, Kishore Raj