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Author

S. Hao

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Open access Jul 2026

Identification of Novel HUWE1 Variants in Turner-Type X-Linked Intellectual Disability.

This study expands the pathogenic variant spectrum of HUWE1 and provides novel molecular evidence for the clinical diagnosis of Turner-type XLID and is of significant value for genetic counseling, carrier screening, and prenatal diagnosis for the affected families.

Jingjing Zhang, Jing He, H. Pan et al. · 0 citations