Article
Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.
Human genomics - 24 Dec 2025
Xie Yaxue, Zhang Ziyan, Zhu Gang, Li Zhichao, Zhang Huiling, Zhang Jiaqi, Wan Lin, Yang Guang
Abstract excerpt
BACKGROUND: Transducin β-like 1 X-linked receptor 1 (TBL1XR1) protein is an important component of NCoR/SMRT complex. The variants of TBL1XR1 are associated with Pierpont syndrome (PS) and developmental delay (DD). This study aimed to discover new TBL1XR1 variants, their clinical manifestations, and protein-level changes. METHODS: Whole-exome sequencing was used to identify patients with TBL1XR1 variants in 2024....
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