Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review
Arman Zhao(Soochow University), Xuqin Chen(Soochow University), Bingbing Zhang(Zhejiang Chinese Medical University), Jing Huang(Tianjin University of Traditional Chinese Medicine), Bin Yang(Guilin Medical University), Yiping Shen(Zhejiang Chinese Medical University), Rui Zhou(Shanghai University of Traditional Chinese Medicine), Min Liu(Biomarker Technologies (China)), Jian Wang(Xinjiang Medical University), Jian Wang(Shanghai Jiao Tong University), Haitao Lv(Soochow University), Ruen Yao(Shanghai Jiao Tong University), Hongying Wang(Soochow University), Qin Gu(Shanghai Jiao Tong University)
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