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Autor:
Hui-Min Chen, Qian Lu, Li-Ying Liu, Yang-Yang Wang, Li-Ping Zou, Wen He, Bing He, Ling-Qiang Zhang, Xiu-Yu Shi, Meng-Na Zhang
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(2)
Developmental and epileptic encephalopathy (DEE) is a severe encephalopathy in infants and early childhood. In this study we reported a recurrent de novo variant (c.3985C>T, p.R1330W) in HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein l