Whole exome sequencing of intellectual disability patient
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下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP401594
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资源简介：
In this report, we used whole exome sequencing to identify a novel de novo heterozygous NSD2 truncating variant in a 7-year-old Chinese girl with mild WHS features, including failure to thrive, facial dysmorphisms, developmental delay, mental retardation, and hypotonia.
创建时间：
2022-10-09
