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Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional

Yaxue Xie1,2,3, Ziyan Zhang1,2,3, Gang Zhu1,2,3

  • 1Department of Pediatrics, The First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China.

Human Genomics
|December 24, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
TBL1XR1MinigeneMolecular dockingMolecular dynamicsPierpont syndrome

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