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Updated: Mar 14, 2026

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ZMYND11 p.Arg600Trp变异与独特的神经发育现象型相关

Hidetaka Yoshimatsu1, Jun Kido2,3, Takaaki Sawada4

  • 1Division of Neonatology, Perinatal Center, Kumamoto City Hospital, Kumamoto, Japan.

Human genome variation
|March 13, 2026
PubMed
概括

指MYND类型含有11个 (ZMYND11) 误解变体,与功能丧失变体不同,可能呈现出独特的神经发育障碍子组. 这种p.(Arg600Trp) 变种表现出一致的特征,扩大了已知的ZMYND11表型谱.

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