A Missense Variant in the SOX5 Gene (c.221c > T) is Associated with Intellectual Disability.

Xiujuan Yang,Zhongzhi Gan, Xiaoling Guo,Xiang Huang, Juan Liu,Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He,Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang,Fu Xiong

Orphanet Journal of Rare Diseases（2025）

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Key words

Intellectual disability,SOX5,C.221C > T,Bioinformatics prediction,Protein stability,Down-regulate

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