Open access
Aug 2026
Functional Characterization of the PAX8 p.Leu264Pro Variant Identified in a Patient with a Müllerian Duct Anomaly
No major functional difference was detected between PAX8-WT and L264P under the tested conditions; however, these findings do not establish functional equivalence or exclude smaller, tissue-specific, or developmental-stage-specific effects.
Lin He, Liang-Zhe Li, Yu-Xiao Li et al.
· Genes · 0 citations