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浏览/检索结果: 共1条，第1-1条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype 期刊论文 HUMAN MUTATION, 2017, 卷号: 38, 期号: 12 作者:  Chen, Li;  Jensik, Philip J.;  Alaimo, Joseph T.;  Walkiewicz, Magdalena;  Berger, Seth 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 clinical exome sequencing (CES)  deformed epidermal autoregulatory factor-1 (DEAF1)  associated neurodevelopmental disorder (DAND)  intellectual disability (ID)  nuclear localization signal (NLS)  SAND