Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families
通过在多个家族中发现的不同变异,扩展了TUBB2B的临床和分子谱
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影响因子:
doi:10.64898/2025.12.28.25342917
Beheshti, Shaghayegh T; Jolly, Angad; Saad, Ahmed K; Du, Haowei; Westerfield, Lauren E; Munderloh, Chloe; Kalra, Divya; Wu, Yifan; Chen, Yi; Gingras, Marie-Claude; Jhangiani, Shalini N; Yilmaz, Sarenur; Zaki, Maha S; Calame, Daniel G; Pehlivan, Davut; Gibbs, Richard A; Lewis, Richard A; Lupski, James R; Posey, Jennifer E