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.
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Yiping Shen | Jian Wang | H. Lv | R. Yao | Min Liu | Jing Huang | Rui Zhou | Arman Zhao | Hongying Wang | Q. Gu | Xu-qin Chen | Bingbing Zhang | Bin Yang