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The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles TUBB2B中的p.Ile202Thr替换可能与先天性眼外肌纤维化综合征表现相关。

Genes 2025, Vol. 16, Page 1182

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2025-10-11

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Cecilia Mancini; Luigi Chiriatti; Alessandro Bruselles; Paola D’ambrosio; Andrea Ciolfi; Marco Ferilli; Camilla Cappelletti; Mattia Carvetta; Francesca Clementina Radio; Viviana Cordeddu; Marcello Niceta; Marta Parrino; Rossella Capolino; Corrado Mammì; Rossana Senese; Mario Muto; Manuela Priolo; Marco Tartaglia