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    Identification of a novel mutation in RBM10 gene: A case report of TARP syndrome with deletion mutation

    Identification of a novel mutation in RBM10 gene: A case report of TARP syndrome with deletion mutation av Xiaodan Chen, Wen Zhang, Yun ting Lin, Li Liu

    Publicerad 2025-07-01

    Background: RNA-binding motif protein 10 plays a crucial role in RNA splicing and is implicated in various human diseases, including Tracheoesophageal-Absent Radius-Polydactyly syndrome. Previously considered universally fatal in the early neonatal period, recent cases have demonstrated patients sur...

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