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  1. 1
    Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report

    Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report by Dong-Ying Tao, Huan-Hong Niu, Jing-Jing Zhang, Hui-Qin Zhang, Ming-Hua Zeng, Sheng-Quan Cheng

    Published 2022-08-01
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    Article
  2. 2
    PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report

    PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report by DongYing Tao, HuiQin Zhang, Jingmin Yang, HuanHong Niu, JingJing Zhang, Minghua Zeng, ShengQuan Cheng

    Published 2022-04-01
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    Article

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