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Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9

SOX11 is a transcription factor belonging to the sex determining region Y-related high-mobility group box family that plays a vital role in early embryogenesis and neurogenesis. De novo variants in SOX11 have been initially reported to cause a rare neurodevelopmental disorder, mainly referred to Cof...

詳細記述

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書誌詳細
主要な著者: Yu Ding, Jiande Chen, Yijun Tang, Li-Na Chen, Ru-En Yao, Tingting Yu, Yong Yin, Xiumin Wang, Jian Wang, Niu Li
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2022-07-01
シリーズ:Frontiers in Genetics
主題:
オンライン・アクセス:https://www.frontiersin.org/articles/10.3389/fgene.2022.940776/full
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