The molecular genetics of Malformations of Cortical Development
收藏Mendeley Data2024-01-31 更新2024-06-28 收录
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https://nda.nih.gov/study.html?id=1484
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资源简介：
In this study, whole-exome sequencing (WES) was used to detect potential somatic mutations causing Malformations of Cortical Development, such as Focal Cortical Dysplasia (FCD), Hemimegalencephaly (HME), Tuberous sclerosis complex (TSC). WES from to the affected brain samples fro surgery and control samples (blood or saliva) were subjected to state-of-the-art detection software and somatic mutations putative to those disorders were detected.
创建时间：
2024-01-31
