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A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma

Molecular Biology

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Authors

Zhenglong Guo,Jie Bai

Yule Liu,Xianwei Zhang,Wenke Yang,Jinming Wang,Yuwei Zhang,Hai Xiao,Bingtao Hao,Shixiu Liao

+8 authors

Journal

Acta Biochimica et Biophysica Sinica

Published

Nov 1, 2024

DOI

10.3724/abbs.2024204

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Abstract

encodes a core subunit of the SWI/SNF chromatin remodeling complex, which plays a crucial role in the regulation of gene expression. Germline mutations in the

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