A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD) simultaneously in a Chinese family
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Guohua Yang | Chengyan Li | Yulie Xie | Tao Li | Qimei Zhang | Cong Qiu | Xiaoyun Tong | Luoyang Dai | Wenda Liu