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A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies by Guanting Lu, Liya Ma, Pei Xu, Binqiang Xian, Lianying Wu, Jianying Ding, Xiaoyan He, Huiyun Xia, Wuwu Ding, Zhirong Yang, Qiongling Peng
Published 2022-03-01
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A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing by Qiongling Peng, Yan Zhang, Binqiang Xian, Lianying Wu, Lianying Wu, Jianying Ding, Wuwu Ding, Xin Zhang, Bilan Ding, Ding Li, Jin Wu, Xiaowu Hu, Guanting Lu, Guanting Lu
Published 2022-10-01
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